1. (2,5-dihydroxyphenyl)-Acetate
2. (2,5-dihydroxyphenyl)-Acetic acid
3. 2,5-Dihydroxy-a-toluate
4. 2,5-Dihydroxy-a-toluic acid
5. 2,5-Dihydroxy-alpha-toluate
6. 2,5-Dihydroxy-alpha-toluic acid
7. 2,5-Dihydroxy-benzeneacetate
8. 2,5-Dihydroxy-benzeneacetic acid
9. 2,5-Dihydroxyphenylacetate
10. 2,5-Dihydroxyphenylacetic acid
11. Alcapton
12. Homogentisate
13. Homogentisate acid
14. Homogentisinate
15. Homogentisinic acid;Melanic acid.

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• Cytoplasm

• Blood
• Urine

• 203500 (Alkaptonuria)

1. Phornphutkul C, Introne WJ, Perry MB, Bernardini I, Murphey MD, Fitzpatrick DL, Anderson PD, Huizing M, Anikster Y, Gerber LH, Gahl WA: Natural history of alkaptonuria. N Engl J Med. 2002 Dec 26;347(26):2111-21. [PubMed ]
2. La Du BN Jr: Are we ready to try to cure alkaptonuria? Am J Hum Genet. 1998 Apr;62(4):765-7. [PubMed ]
3. Concepcion Masip T, Banares Baudet F, Traba ML, Rodriguez de Minon Cifuentes JL: [Alkaptonuria, prostatic calculi, and ectopic ureter] Actas Urol Esp. 1997 Feb;21(2):167-70. [PubMed ]
4. Ehongo A, Schrooyen M, Pereleux A: [Important bilateral corneal astigmatism in a case of ocular ochronosis] Bull Soc Belge Ophtalmol. 2005;(295):17-21. [PubMed ]
5. Deutsch JC, Santhosh-Kumar CR: Quantitation of homogentisic acid in normal human plasma. J Chromatogr B Biomed Appl. 1996 Feb 23;677(1):147-51. [PubMed ]
6. Shoemaker JD, Elliott WH: Automated screening of urine samples for carbohydrates, organic and amino acids after treatment with urease. J Chromatogr. 1991 Jan 2;562(1-2):125-38. [PubMed ]
7. Janocha S, Wolz W, Srsen S, Srsnova K, Montagutelli X, Guenet JL, Grimm T, Kress W, Muller CR: The human gene for alkaptonuria (AKU) maps to chromosome 3q. Genomics. 1994 Jan 1;19(1):5-8. [PubMed ]
8. de Haas V, Carbasius Weber EC, de Klerk JB, Bakker HD, Smit GP, Huijbers WA, Duran M, Poll-The BT: The success of dietary protein restriction in alkaptonuria patients is age-dependent. J Inherit Metab Dis. 1998 Dec;21(8):791-8. [PubMed ]
9. Hegedus ZL, Nayak U: Homogentisic acid and structurally related compounds as intermediates in plasma soluble melanin formation and in tissue toxicities. Arch Int Physiol Biochim Biophys. 1994 May-Jun;102(3):175-81. [PubMed ]
10. Venkataseshan VS, Chandra B, Graziano V, Steinlauf P, Marquet E, Irmiere V, Needle MA: Alkaptonuria and renal failure: a case report and review of the literature. Mod Pathol. 1992 Jul;5(4):464-71. [PubMed ]
11. Bory C, Boulieu R, Chantin C, Mathieu M: Diagnosis of alcaptonuria: rapid analysis of homogentisic acid by HPLC. Clin Chim Acta. 1990 Jul;189(1):7-11. [PubMed ]
12. Wikipedia

1. 4-hydroxyphenylpyruvate dioxygenase
2. Homogentisate 1,2-dioxygenase
3. cDNA FLJ76150, highly similar to Homo sapiens 4-hydroxyphenylpyruvate dioxygenase

1. 4-hydroxyphenylpyruvic acid oxidase
2. 4HPPD
3. HPD
4. HPPDase

MTTYSDKGAKPERGRFLHFHSVTFWVGNAKQAASFYCSKMGFEPLAYRGLETGSREVVSH
VIKQGKIVFVLSSALNPWNKEMGDHLVKHGDGVKDIAFEVEDCDYIVQKARERGAKIMRE
PWVEQDKFGKVKFAVLQTYGDTTHTLVEKMNYIGQFLPGYEAPAFMDPLLPKLPKCSLEM
IDHIVGNQPDQEMVSASEWYLKNLQFHRFWSVDDTQVHTEYSSLRSIVVANYEESIKMPI
NEPAPGKKKSQIQEYVDYNGGAGVQHIALKTEDIITAIRHLRERGLEFLSVPSTYYKQLR
EKLKTAKIKVKENIDALEELKILVDYDEKGYLLQIFTKPVQDRPTLFLEVIQRHNHQGFG
AGNFNSLFKAFEEEQNLRGNLTNMETNGVVPGM

• Phenylalanine Metabolism (map00360 )
• Tyrosine Metabolism (map00350 )

• 4-hydroxyphenylpyruvate + O2 = homogentisate + CO2 [RN:R02521]

• Glyoxalase (PF00903 )

• None

• None

ATGACGACTTACAGTGACAAAGGGGCAAAGCCTGAGAGAGGCCGATTCCTCCACTTCCAC
TCTGTGACCTTCTGGGTTGGCAACGCCAAGCAGGCCGCGTCATTCTACTGCAGCAAGATG
GGCTTTGAACCTCTAGCCTACAGGGGCCTGGAGACCGGTTCCCGGGAGGTGGTCAGCCAT
GTAATCAAACAAGGGAAGATTGTGTTTGTCCTCTCCTCAGCGCTCAACCCCTGGAACAAA
GAGATGGGCGATCACCTGGTGAAACACGGTGACGGAGTGAAGGACATTGCGTTCGAGGTG
GAAGATTGTGACTACATCGTGCAGAAAGCACGGGAACGGGGCGCCAAAATCATGCGGGAG
CCCTGGGTAGAGCAAGACAAGTTTGGGAAGGTGAAGTTTGCTGTGCTGCAGACGTATGGG
GACACCACACACACCCTGGTGGAGAAGATGAACTACATCGGCCAATTCTTGCCTGGATAT
GAGGCCCCAGCGTTCATGGACCCCCTACTTCCTAAACTGCCCAAATGCAGTCTGGAGATG
ATCGACCACATTGTGGGAAACCAGCCTGATCAGGAGATGGTGTCCGCCTCCGAATGGTAC
CTGAAAAACCTGCAGTTCCACCGCTTCTGGTCCGTGGATGACACGCAGGTGCACACGGAA
TATAGCTCTCTGCGATCCATTGTGGTGGCCAACTATGAAGAGTCCATCAAGATGCCCATC
AATGAGCCAGCGCCTGGCAAGAAGAAGTCCCAGATCCAGGAATATGTGGACTATAACGGG
GGCGCTGGGGTCCAGCACATCGCTCTCAAGACCGAAGACATCATCACAGCGATTCGCCAC
TTGAGAGAGAGAGGCCTGGAGTTCTTATCTGTTCCCTCCACGTACTACAAACAACTGCGG
GAGAAGCTGAAGACGGCCAAGATCAAGGTGAAGGAGAACATTGATGCCCTGGAGGAGCTG
AAAATCCTGGTGGACTACGACGAGAAAGGCTACCTCCTGCAGATCTTCACCAAACCGGTG
CAGGACCGGCCCACGCTCTTCCTGGAAGTCATCCAGCGCCACAACCACCAGGGTTTTGGA
GCCGGCAACTTCAACTCACTGTTCAAGGCTTTCGAGGAGGAGCAGAACCTGCGGGGTAAC
CTCACCAACATGGAGACCAATGGGGTGGTGCCCGGCATGTAA

1. Ruetschi U, Dellsen A, Sahlin P, Stenman G, Rymo L, Lindstedt S: Human 4-hydroxyphenylpyruvate dioxygenase. Primary structure and chromosomal localization of the gene. Eur J Biochem. 1993 May 1;213(3):1081-9. [PubMed ]
2. Awata H, Endo F, Matsuda I: Structure of the human 4-hydroxyphenylpyruvic acid dioxygenase gene (HPD). Genomics. 1994 Oct;23(3):534-9. [PubMed ]
3. Stenman G, Roijer E, Ruetschi U, Dellsen A, Rymo L, Lindstedt S: Regional assignment of the human 4-hydroxyphenylpyruvate dioxygenase gene (HPD) to 12q24-->qter by fluorescence in situ hybridization. Cytogenet Cell Genet. 1995;71(4):374-6. [PubMed ]
4. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed ]
5. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed ]
6. Ruetschi U, Cerone R, Perez-Cerda C, Schiaffino MC, Standing S, Ugarte M, Holme E: Mutations in the 4-hydroxyphenylpyruvate dioxygenase gene (HPD) in patients with tyrosinemia type III. Hum Genet. 2000 Jun;106(6):654-62. [PubMed ]
7. Tomoeda K, Awata H, Matsuura T, Matsuda I, Ploechl E, Milovac T, Boneh A, Scott CR, Danks DM, Endo F: Mutations in the 4-hydroxyphenylpyruvic acid dioxygenase gene are responsible for tyrosinemia type III and hawkinsinuria. Mol Genet Metab. 2000 Nov;71(3):506-10. [PubMed ]

1. Homogentisate oxygenase
2. Homogentisic acid oxidase
3. Homogentisicase

MAELKYISGFGNECSSEDPRCPGSLPEGQNNPQVCPYNLYAEQLSGSAFTCPRSTNKRSW
LYRILPSVSHKPFESIDEGQVTHNWDEVDPDPNQLRWKPFEIPKASQKKVDFVSGLHTLC
GAGDIKSNNGLAIHIFLCNTSMENRCFYNSDGDFLIVPQKGNLLIYTEFGKMLVQPNEIC
VIQRGMRFSIDVFEETRGYILEVYGVHFELPDLGPIGANGLANPRDFLIPIAWYEDRQVP
GGYTVINKYQGKLFAAKQDVSPFNVVAWHGNYTPYKYNLKNFMVINSVAFDHADPSIFTV
LTAKSVRPGVAIADFVIFPPRWGVADKTFRPPYYHRNCMSEFMGLIRGHYEAKQGGFLPG
GGSLHSTMTPHGPDADCFEKASKVKLAPERIADGTMAFMFESSLSLAVTKWGLKASRCLD
ENYHKCWEPLKSHFTPNSRNPAEPN

• Styrene Degradation (map00643 )
• Tyrosine Metabolism (map00350 )

• homogentisate + O2 = 4-maleylacetoacetate [RN:R02519]

• HgmA (PF04209 )

• None

• None

ATGGCTGAGTTAAAGTACATTTCTGGATTTGGGAATGAGTGTTCTTCAGAGGATCCTCGC
TGCCCAGGTTCCCTGCCAGAAGGACAGAATAATCCTCAGGTCTGCCCCTACAATCTCTAT
GCTGAGCAGCTCTCAGGATCGGCTTTCACTTGTCCACGGAGCACCAATAAGAGAAGCTGG
CTGTATAGGATTCTACCTTCAGTTTCTCACAAGCCCTTTGAATCCATTGACGAAGGCCAA
GTCACTCACAACTGGGATGAAGTTGATCCTGATCCTAACCAGCTTAGATGGAAACCATTT
GAGATTCCAAAAGCATCTCAGAAGAAAGTAGACTTTGTGAGTGGCCTGCATACCTTGTGT
GGAGCTGGAGACATAAAGTCTAACAATGGGCTTGCTATCCACATTTTCCTCTGCAATACC
TCCATGGAGAACAGATGCTTTTACAATTCAGATGGGGACTTCTTGATTGTTCCGCAGAAA
GGGAACCTTCTCATTTACACCGAGTTTGGCAAGATGCTTGTACAGCCCAATGAGATCTGC
GTCATTCAGAGAGGAATGCGGTTCAGCATAGATGTCTTTGAGGAGACCAGGGGCTACATC
TTGGAGGTCTATGGTGTCCACTTTGAGTTACCTGACCTTGGACCAATTGGGGCCAATGGC
TTGGCCAATCCTCGTGATTTCTTGATACCCATTGCCTGGTATGAGGATCGCCAAGTACCA
GGTGGTTACACGGTCATTAATAAATACCAGGGCAAGCTGTTTGCTGCCAAACAGGATGTC
TCCCCGTTCAATGTTGTGGCCTGGCACGGGAATTATACACCCTACAAGTACAACCTGAAG
AATTTCATGGTTATCAACTCAGTGGCCTTTGACCATGCAGACCCATCCATTTTCACAGTA
TTGACTGCTAAGTCTGTCCGCCCTGGAGTGGCCATTGCTGATTTTGTCATCTTCCCACCT
CGATGGGGGGTTGCTGATAAGACCTTCAGGCCTCCTTATTACCATAGGAACTGCATGAGT
GAGTTCATGGGACTCATCCGAGGTCACTATGAGGCAAAGCAAGGTGGGTTCCTGCCAGGG
GGAGGGAGTCTACACAGCACAATGACCCCCCATGGACCTGATGCTGACTGCTTTGAGAAG
GCCAGCAAGGTCAAGCTGGCACCTGAGAGGATTGCCGATGGCACCATGGCATTTATGTTT
GAATCATCTTTAAGTCTGGCGGTCACAAAGTGGGGACTCAAGGCCTCCAGGTGTTTGGAT
GAGAACTACCACAAGTGCTGGGAGCCACTCAAGAGCCACTTCACTCCCAACTCCAGGAAC
CCAGCAGAACCTAATTGA

1. Fernandez-Canon JM, Granadino B, Beltran-Valero de Bernabe D, Renedo M, Fernandez-Ruiz E, Penalva MA, Rodriguez de Cordoba S: The molecular basis of alkaptonuria. Nat Genet. 1996 Sep;14(1):19-24. [PubMed ]
2. Granadino B, Beltran-Valero de Bernabe D, Fernandez-Canon JM, Penalva MA, Rodriguez de Cordoba S: The human homogentisate 1,2-dioxygenase (HGO) gene. Genomics. 1997 Jul 15;43(2):115-22. [PubMed ]
3. Ota T, Suzuki Y, Nishikawa T, Otsuki T, Sugiyama T, Irie R, Wakamatsu A, Hayashi K, Sato H, Nagai K, Kimura K, Makita H, Sekine M, Obayashi M, Nishi T, Shibahara T, Tanaka T, Ishii S, Yamamoto J, Saito K, Kawai Y, Isono Y, Nakamura Y, Nagahari K, Murakami K, Yasuda T, Iwayanagi T, Wagatsuma M, Shiratori A, Sudo H, Hosoiri T, Kaku Y, Kodaira H, Kondo H, Sugawara M, Takahashi M, Kanda K, Yokoi T, Furuya T, Kikkawa E, Omura Y, Abe K, Kamihara K, Katsuta N, Sato K, Tanikawa M, Yamazaki M, Ninomiya K, Ishibashi T, Yamashita H, Murakawa K, Fujimori K, Tanai H, Kimata M, Watanabe M, Hiraoka S, Chiba Y, Ishida S, Ono Y, Takiguchi S, Watanabe S, Yosida M, Hotuta T, Kusano J, Kanehori K, Takahashi-Fujii A, Hara H, Tanase TO, Nomura Y, Togiya S, Komai F, Hara R, Takeuchi K, Arita M, Imose N, Musashino K, Yuuki H, Oshima A, Sasaki N, Aotsuka S, Yoshikawa Y, Matsunawa H, Ichihara T, Shiohata N, Sano S, Moriya S, Momiyama H, Satoh N, Takami S, Terashima Y, Suzuki O, Nakagawa S, Senoh A, Mizoguchi H, Goto Y, Shimizu F, Wakebe H, Hishigaki H, Watanabe T, Sugiyama A, Takemoto M, Kawakami B, Yamazaki M, Watanabe K, Kumagai A, Itakura S, Fukuzumi Y, Fujimori Y, Komiyama M, Tashiro H, Tanigami A, Fujiwara T, Ono T, Yamada K, Fujii Y, Ozaki K, Hirao M, Ohmori Y, Kawabata A, Hikiji T, Kobatake N, Inagaki H, Ikema Y, Okamoto S, Okitani R, Kawakami T, Noguchi S, Itoh T, Shigeta K, Senba T, Matsumura K, Nakajima Y, Mizuno T, Morinaga M, Sasaki M, Togashi T, Oyama M, Hata H, Watanabe M, Komatsu T, Mizushima-Sugano J, Satoh T, Shirai Y, Takahashi Y, Nakagawa K, Okumura K, Nagase T, Nomura N, Kikuchi H, Masuho Y, Yamashita R, Nakai K, Yada T, Nakamura Y, Ohara O, Isogai T, Sugano S: Complete sequencing and characterization of 21,243 full-length human cDNAs. Nat Genet. 2004 Jan;36(1):40-5. Epub 2003 Dec 21. [PubMed ]
4. Muzny DM, Scherer SE, Kaul R, Wang J, Yu J, Sudbrak R, Buhay CJ, Chen R, Cree A, Ding Y, Dugan-Rocha S, Gill R, Gunaratne P, Harris RA, Hawes AC, Hernandez J, Hodgson AV, Hume J, Jackson A, Khan ZM, Kovar-Smith C, Lewis LR, Lozado RJ, Metzker ML, Milosavljevic A, Miner GR, Morgan MB, Nazareth LV, Scott G, Sodergren E, Song XZ, Steffen D, Wei S, Wheeler DA, Wright MW, Worley KC, Yuan Y, Zhang Z, Adams CQ, Ansari-Lari MA, Ayele M, Brown MJ, Chen G, Chen Z, Clendenning J, Clerc-Blankenburg KP, Chen R, Chen Z, Davis C, Delgado O, Dinh HH, Dong W, Draper H, Ernst S, Fu G, Gonzalez-Garay ML, Garcia DK, Gillett W, Gu J, Hao B, Haugen E, Havlak P, He X, Hennig S, Hu S, Huang W, Jackson LR, Jacob LS, Kelly SH, Kube M, Levy R, Li Z, Liu B, Liu J, Liu W, Lu J, Maheshwari M, Nguyen BV, Okwuonu GO, Palmeiri A, Pasternak S, Perez LM, Phelps KA, Plopper FJ, Qiang B, Raymond C, Rodriguez R, Saenphimmachak C, Santibanez J, Shen H, Shen Y, Subramanian S, Tabor PE, Verduzco D, Waldron L, Wang J, Wang J, Wang Q, Williams GA, Wong GK, Yao Z, Zhang J, Zhang X, Zhao G, Zhou J, Zhou Y, Nelson D, Lehrach H, Reinhardt R, Naylor SL, Yang H, Olson M, Weinstock G, Gibbs RA: The DNA sequence, annotation and analysis of human chromosome 3. Nature. 2006 Apr 27;440(7088):1194-8. [PubMed ]
5. Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Genome Res. 2004 Oct;14(10B):2121-7. [PubMed ]
6. Choudhary C, Kumar C, Gnad F, Nielsen ML, Rehman M, Walther TC, Olsen JV, Mann M: Lysine acetylation targets protein complexes and co-regulates major cellular functions. Science. 2009 Aug 14;325(5942):834-40. Epub 2009 Jul 16. [PubMed ]
7. Titus GP, Mueller HA, Burgner J, Rodriguez De Cordoba S, Penalva MA, Timm DE: Crystal structure of human homogentisate dioxygenase. Nat Struct Biol. 2000 Jul;7(7):542-6. [PubMed ]
8. Gehrig A, Schmidt SR, Muller CR, Srsen S, Srsnova K, Kress W: Molecular defects in alkaptonuria. Cytogenet Cell Genet. 1997;76(1-2):14-6. [PubMed ]
9. Beltran-Valero de Bernabe D, Granadino B, Chiarelli I, Porfirio B, Mayatepek E, Aquaron R, Moore MM, Festen JJ, Sanmarti R, Penalva MA, de Cordoba SR: Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients. Am J Hum Genet. 1998 Apr;62(4):776-84. [PubMed ]
10. Higashino K, Liu W, Ohkawa T, Yamamoto T, Fukui K, Ohno M, Imanishi H, Iwasaki A, Amuro Y, Hada T: A novel point mutation associated with alkaptonuria. Clin Genet. 1998 Mar;53(3):228-9. [PubMed ]
11. Beltran-Valero de Bernabe D, Jimenez FJ, Aquaron R, Rodriguez de Cordoba S: Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO). Am J Hum Genet. 1999 May;64(5):1316-22. [PubMed ]
12. Felbor U, Mutsch Y, Grehn F, Muller CR, Kress W: Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene. Br J Ophthalmol. 1999 Jun;83(6):680-3. [PubMed ]
13. Muller CR, Fregin A, Srsen S, Srsnova K, Halliger-Keller B, Felbor U, Seemanova E, Kress W: Allelic heterogeneity of alkaptonuria in Central Europe. Eur J Hum Genet. 1999 Sep;7(6):645-51. [PubMed ]
14. Beltran-Valero de Bernabe D, Peterson P, Luopajarvi K, Matintalo P, Alho A, Konttinen Y, Krohn K, Rodriguez de Cordoba S, Ranki A: Mutational analysis of the HGO gene in Finnish alkaptonuria patients. J Med Genet. 1999 Dec;36(12):922-3. [PubMed ]

1. HPD, mRNA
2. 4-hydroxyphenylpyruvate dioxygenase, isoform CRA_b

MTTYSDKGAKPERGRFLHFHSVTFWVGNAKQAASFYCSKMGFEPLAYRGLETGSREVVSH
VIKQGKIVFVLSSALNPWNKEMGDHLVKHGDGVKDIAFEVEDCDYIVQKARERGAKIMRE
PWVEQDKFGKVKFAVLQTYGDTTHTLVEKMNYIGQFLPGYEAPAFMDPLLPKLPKCSLEM
IDHIVGNQPDQEMVSASEWYLKNLQFHRFWSVDDTQVHTEYSSLRSIVVANYEESIKMPI
NEPAPGKKKSQIQEYVDYNGGAGVQHIALKTEDIITAIRHLRERGLEFLSVPSTYYKQLR
EKLKTAKIKVKENIDALEELKILVDYDEKGYLLQIFTKPVQDRPTLFLEVIQRHNHQGFG
AGNFNSLFKAFEEEQNLRGNLTNMETNGVVPGM

• None

• None