Hmdb loader
Survey
Identification
HMDB Protein ID HMDBP01244
Secondary Accession Numbers
  • 6540
Name Transient receptor potential cation channel subfamily M member 6
Synonyms
  1. Channel kinase 2
  2. Melastatin-related TRP cation channel 6
Gene Name TRPM6
Protein Type Unknown
Biological Properties
General Function Involved in ion channel activity
Specific Function Essential ion channel and serine/threonine-protein kinase. Crucial for magnesium homeostasis. Has an important role in epithelial magnesium transport and in the active magnesium absorption in the gut and kidney. Isoforms of the type M6-kinase lack the ion channel region
Pathways Not Available
Reactions Not Available
GO Classification
Component
membrane
cell part
Function
binding
catalytic activity
transferase activity
transferase activity, transferring phosphorus-containing groups
kinase activity
nucleoside binding
purine nucleoside binding
adenyl nucleotide binding
adenyl ribonucleotide binding
atp binding
transmembrane transporter activity
substrate-specific transmembrane transporter activity
ion transmembrane transporter activity
protein kinase activity
transporter activity
ion channel activity
protein serine/threonine kinase activity
Process
phosphorus metabolic process
phosphate metabolic process
metabolic process
establishment of localization
transport
cellular metabolic process
protein amino acid phosphorylation
transmembrane transport
phosphorylation
ion transport
Cellular Location
  1. Membrane
  2. Multi-pass membrane protein
Gene Properties
Chromosome Location Chromosome:9
Locus 9q21.13
SNPs TRPM6
Gene Sequence
>6069 bp
ATGAAAGAACAACCTGTCTTGGAGCGCTTGCAGTCCCAGAAATCCTGGATTAAAGGAGTA
TTTGACAAGAGAGAATGTAGCACAATCATACCCAGCTCAAAAAATCCTCACAGATGTACT
CCAGTATGCCAAGTCTGCCAGAATTTAATCAGGTGTTACTGTGGCCGACTGATTGGAGAC
CATGCTGGGATAGATTATTCCTGGACCATCTCAGCTGCCAAGGGTAAAGAAAGTGAACAA
TGGTCTGTTGAAAAGCACACAACGAAAAGCCCAACAGATACTTTTGGCACGATTAATTTC
CAAGATGGAGAGCACACCCATCATGCCAAGTATATTAGAACTTCTTATGATACAAAACTG
GATCATCTGTTACATTTAATGTTGAAAGAGTGGAAAATGGAACTGCCCAAGCTTGTGATC
TCAGTCCATGGGGGCATCCAGAACTTTACTATGCCCTCTAAATTTAAAGAGATTTTCAGC
CAAGGTTTGGTTAAAGCTGCAGAGACAACAGGAGCGTGGATAATAACTGAAGGCATCAAT
ACAGGAGTGTCCAAGCATGTTGGGGATGCCTTGAAATCCCATTCCTCTCATTCCTTGAGA
AAAATCTGGACAGTTGGAATCCCTCCTTGGGGTGTCATTGAGAACCAGAGAGACCTTATT
GGAAAAGATGTGGTGTGCCTGTACCAGACTCTGGATAACCCCCTCAGCAAGCTCACAACA
CTCAACAGCATGCACTCGCACTTCATCCTGTCTGATGATGGGACCGTGGGCAAGTATGGA
AATGAAATGAAGCTCAGAAGGAACCTGGAGAAGTACCTCTCTCTGCAGAAAATACACTGC
CGCTCAAGACAAGGCGTGCCGGTCGTGGGGCTGGTGGTGGAAGGCGGTCCCAACGTCATC
CTGTCAGTGTGGGAGACTGTCAAGGACAAGGACCCAGTGGTGGTGTGTGAGGGCACAGGT
AGGGCGGCTGACCTCCTGGCCTTCACACACAAACACCTGGCAGATGAAGGGATGCTGCGA
CCTCAGGTGAAAGAGGAGATCATCTGCATGATTCAGAACACTTTCAACTTTAGTCTTAAA
CAGTCCAAGCACCTTTTCCAAATTCTAATGGAGTGTATGGTTCACAGGGATTGTATTACC
ATATTTGATGCTGACTCTGAAGAGCAGCAAGACCTGGACTTAGCAATCCTAACAGCTTTG
CTGAAGGGCACAAATTTATCAGCGTCAGAGCAATTAAATCTGGCAATGGCTTGGGACAGG
GTGGACATTGCCAAGAAACATATCCTAATTTATGAACAACACTGGAAGCCTGATGCCCTG
GAACAAGCAATGTCAGATGCTTTAGTGATGGATCGGGTGGATTTTGTGAAGCTCTTAATA
GAATATGGAGTGAACCTCCATCGCTTTCTTACCATCCCTCGACTGGAAGAGCTCTACAAT
ACAAAACAAGGACCTACTAATACACTCTTGCATCATCTCGTCCAAGATGTGAAACAGCAT
ACCCTTCTTTCAGGCTACCGAATAACCTTGATTGACATTGGATTAGTAGTAGAATACCTC
ATTGGTAGAGCATATCGCAGCAACTACACTAGAAAACATTTCAGAGCCCTCTACAACAAC
CTCTACAGAAAATACAAGCACCAGAGACACTCCTCAGGAAATAGAAATGAGTCTGCAGAA
AGTACGCTGCACTCCCAGTTCATTAGAACTGCACAGCCATACAAATTCAAGGAAAAGTCT
ATAGTCCTTCATAAATCAAGGAAGAAGTCAAAAGAACAAAATGTATCAGATGACCCTGAG
TCTACTGGCTTTCTTTACCCTTACAATGACCTGCTGGTTTGGGCTGTGCTGATGAAAAGG
CAGAAGATGGCTATGTTCTTCTGGCAGCATGGAGAGGAGGCCACGGTTAAAGCCGTGATT
GCGTGTATCCTCTACCGGGCAATGGCCCATGAAGCTAAGGAGAGTCACATGGTGGATGAT
GCCTCAGAAGAGTTGAAGAATTACTCAAAACAGTTTGGCCAGCTGGCTCTGGACTTGTTG
GAGAAGGCATTCAAGCAGAATGAGCGCATGGCCATGACGCTGTTGACGTATGAACTCAGG
AACTGGAGCAATTCGACCTGCCTTAAACTGGCCGTGTCGGGAGGATTACGACCCTTTGTT
TCACATACTTGTACCCAGATGCTACTGACAGACATGTGGATGGGGAGGCTGAAAATGAGG
AAAAACTCTTGGTTAAAGATTATTATAAGCATTATTTTACCACCCACCATTTTGACACTG
GAATTTAAAAGCAAAGCTGAGATGTCACATGTTCCCCAGTCCCAGGACTTCCAATTTATG
TGGTATTACAGTGACCAGAACGCCAGCAGTTCCAAAGAAAGTGCTTCTGTGAAAGAGTAT
GATTTGGAAAGGGGCCATGATGAGAAACTGGATGAAAATCAGCATTTTGGTTTGGAAAGT
GGGCACCAACACCTTCCGTGGACCAGGAAAGTCTATGAGTTCTACAGTGCTCCAATTGTC
AAGTTTTGGTTTTATACGATGGCGTATTTGGCATTCCTCATGCTGTTCACTTACACCGTG
TTGGTGGAGATGCAGCCCCAGCCCAGCGTGCAGGAGTGGCTTGTTAGCATTTACATCTTC
ACCAATGCTATTGAGGTGGTCAGGGAGATCTGTATTTCAGAACCTGGGAAGTTTACCCAA
AAGGTGAAGGTATGGATTAGTGAGTACTGGAACTTAACAGAAACTGTGGCCATTGGCCTG
TTTTCAGCTGGCTTCGTCCTTCGATGGGGTGACCCTCCTTTTCACACAGCGGGAAGACTG
ATCTACTGCATAGACATCATATTCTGGTTCTCACGGCTCCTGGACTTCTTTGCTGTGAAT
CAACATGCAGGTCCATATGTGACCATGATTGCAAAAATGACAGCAAACATGTTCTATATT
GTGATCATCATGGCCATAGTCCTGCTGAGCTTTGGAGTGGCACGCAAGGCCATCCTTTCG
CCAAAAGAGCCACCATCTTGGAGTCTAGCTCGAGATATTGTATTTGAGCCATACTGGATG
ATATACGGAGAAGTCTATGCTGGAGAAATAGATGTTTGTTCAAGCCAGCCATCCTGCCCT
CCTGGTTCTTTTCTTACTCCATTCTTGCAAGCTGTCTACCTCTTCGTGCAATATATCATC
ATGGTGAACCTGTTGATTGCTTTCTTCAACAACGTTTACTTAGATATGGAATCCATTTCA
AATAACCTGTGGAAATACAACCGCTATCGCTACATCATGACCTACCACGAGAAGCCCTGG
CTGCCCCCACCTCTCATCCTGCTGAGCCACGTGGGCCTTCTCCTCCGCCGCCTGTGCTGT
CATCGAGCTCCTCACGACCAAGAAGAGGGTGACGTTGGATTAAAACTCTACCTCAGTAAG
GAGGATCTGAAAAAACTTCATGATTTTGAGGAGCAGTGCGTGGAAAAATACTTCCATGAG
AAGATGGAAGATGTGAATTGTAGTTGTGAGGAACGAATCCGAGTGACATCAGAAAGGGTT
ACAGAGATGTACTTCCAGCTGAAAGAAATGAATGAAAAGGTGTCTTTTATAAAGGACTCC
TTACTGTCTTTGGACAGCCAGGTGGGACACCTGCAGGATCTCTCTGCCCTGACTGTGGAT
ACCCTGAAAGTCCTTTCTGCTGTTGACACTTTGCAAGAGGATGAGGCTCTCCTGGCCAAG
AGAAAGCATTCTACTTGCAAAAAACTTCCCCACAGCTGGAGCAATGTCATCTGTGCAGAG
GTTCTAGGCAGCATGGAGATCGCTGGAGAGAAGAAATACCAGTATTATAGCATGCCCTCT
TCTTTGCTGAGGAGCCTGGCTGGAGGCCGGCATCCCCCAAGAGTGCAGAGGGGGGCACTT
CTTGAGATTACAAACAGTAAAAGAGAGGCTACAAATGTAAGAAATGACCAGGAAAGGCAA
GAAACACAAAGTAGTATAGTGGTTTCTGGGGTGTCTCCTAACAGGCAAGCACACTCAAAG
TATGGCCAGTTTCTTCTGGTCCCCTCTAATCTAAAGCGAGTTCCTTTTTCAGCAGAAACT
GTCTTGCCTCTGTCCAGACCCTCTGTGCCAGATGTGCTGGCAACTGAACAGGACATCCAG
ACTGAGGTTCTTGTTCATCTGACTGGGCAGACCCCAGTTGTCTCTGACTGGGCATCAGTG
GATGAACCCAAGGAAAAGCACGAGCCTATTGCTCACTTACTGGATGGACAAGACAAGGCA
GAGCAAGTGCTACCCACTTTGAGTTGCACACCTGAACCCATGACAATGAGCTCCCCTCTT
TCCCAAGCCAAGATCATGCAAACTGGAGGTGGATATGTAAACTGGGCATTTTCAGAAGGT
GATGAAACTGGTGTGTTTAGCATCAAGAAAAAGTGGCAAACCTGCTTGCCCTCCACTTGT
GACAGTGATTCCTCTCGGAGTGAACAGCACCAGAAGCAGGCCCAGGACAGCTCCCTATCT
GATAACTCAACAAGATCGGCCCAGAGTAGTGAATGCTCAGAGGTGGGACCATGGCTTCAG
CCAAACACATCCTTTTGGATCAATCCTCTCCGCAGATACAGGCCCTTCGCTAGGAGTCAT
AGTTTTAGATTCCATAAGGAGGAGAAATTGATGAAGATCTGTAAGATTAAAAATCTTTCA
GGCTCTTCAGAAATAGGGCAGGGAGCATGGGTCAAAGCGAAAATGCTAACCAAAGACAGG
AGACTGTCAAAGAAAAAGAAGAATACTCAAGGACTCCAGGTGCCAATCATAACAGTCAAT
GCCTGCTCTCAGAGTGACCAGTTGAATCCAGAGCCAGGAGAAAACAGCATCTCTGAAGAG
GAGTACAGCAAGAACTGGTTCACAGTGTCCAAATTTAGTCACACAGGTGTAGAACCTTAC
ATACATCAGAAAATGAAAACTAAAGAAATTGGACAATGTGCTATACAAATCAGTGATTAC
CTAAAGCAGTCTCAAGAGGATCTCAGCAAAAACTCTTTGTGGAATTCCAGGAGCACCAAC
CTCAATAGGAACTCCCTGCTGAAAAGTTCAATTGGAGTTGACAAGATCTCAGCCTCCTTA
AAAAGCCCTCAAGAGCCTCACCATCATTATTCAGCCATTGAAAGGAATAATTTAATGAGG
CTTTCTCAGACCATACCATTTACACCAGTCCAACTGTTTGCAGGAGAAGAAATAACTGTC
TACAGGTTGGAGGAGAGTTCCCCTTTAAACCTTGATAAAAGCATGTCCTCTTGGTCTCAG
CGTGGGAGAGCGGCAATGATCCAGGTATTGTCCCGAGAGGAGATGGATGGGGGCCTCCGT
AAAGCTATGAGAGTCGTCAGCACTTGGTCTGAGGATGACATTCTCAAGCCGGGACAAGTT
TTCATTGTCAAGTCCTTTCTTCCTGAGGTTGTGCGGACATGGCATAAAATCTTCCAGGAG
AGCACTGTGCTTCATCTTTGCCTCAGGGAAATTCAACAACAAAGAGCTGCTCAAAAATTG
ATCTATACCTTCAACCAAGTGAAACCACAAACCATACCCTACACACCAAGGTTCCTGGAA
GTTTTCTTAATCTACTGCCATTCAGCCAACCAGTGGTTGACCATTGAGAAGTATATGACA
GGGGAGTTCCGGAAGTATAACAACAACAATGGTGATGAAATCACCCCCACCAACACCCTG
GAGGAGCTGATGTTGGCTTTCTCTCACTGGACCTATGAGTACACTCGGGGAGAGCTGCTG
GTTTTAGATTTGCAAGGTGTTGGAGAAAATTTGACAGATCCATCTGTTATAAAACCTGAA
GTCAAACAATCAAGAGGAATGGTGTTTGGACCGGCCAATTTGGGGGAAGATGCAATTAGA
AACTTCATTGCAAAACATCATTGTAACTCCTGCTGCCGGAAGCTCAAACTCCCGGATTTA
AAAAGAAATGACTATTCCCCTGAAAGGATAAATTCCACCTTTGGACTTGAGATAAAAATA
GAATCAGCTGAGGAGCCTCCAGCAAGGGAGACGGGTAGAAATTCCCCAGAAGATGATATG
CAACTATAA
Protein Properties
Number of Residues 2022
Molecular Weight 231705.9
Theoretical pI 7.82
Pfam Domain Function
Signals
  • None
Transmembrane Regions
  • 742-762
  • 842-862
  • 906-926
  • 940-960
  • 973-993
  • 1048-1068
Protein Sequence
>Transient receptor potential cation channel subfamily M member 6
MKEQPVLERLQSQKSWIKGVFDKRECSTIIPSSKNPHRCTPVCQVCQNLIRCYCGRLIGD
HAGIDYSWTISAAKGKESEQWSVEKHTTKSPTDTFGTINFQDGEHTHHAKYIRTSYDTKL
DHLLHLMLKEWKMELPKLVISVHGGIQNFTMPSKFKEIFSQGLVKAAETTGAWIITEGIN
TGVSKHVGDALKSHSSHSLRKIWTVGIPPWGVIENQRDLIGKDVVCLYQTLDNPLSKLTT
LNSMHSHFILSDDGTVGKYGNEMKLRRNLEKYLSLQKIHCRSRQGVPVVGLVVEGGPNVI
LSVWETVKDKDPVVVCEGTGRAADLLAFTHKHLADEGMLRPQVKEEIICMIQNTFNFSLK
QSKHLFQILMECMVHRDCITIFDADSEEQQDLDLAILTALLKGTNLSASEQLNLAMAWDR
VDIAKKHILIYEQHWKPDALEQAMSDALVMDRVDFVKLLIEYGVNLHRFLTIPRLEELYN
TKQGPTNTLLHHLVQDVKQHTLLSGYRITLIDIGLVVEYLIGRAYRSNYTRKHFRALYNN
LYRKYKHQRHSSGNRNESAESTLHSQFIRTAQPYKFKEKSIVLHKSRKKSKEQNVSDDPE
STGFLYPYNDLLVWAVLMKRQKMAMFFWQHGEEATVKAVIACILYRAMAHEAKESHMVDD
ASEELKNYSKQFGQLALDLLEKAFKQNERMAMTLLTYELRNWSNSTCLKLAVSGGLRPFV
SHTCTQMLLTDMWMGRLKMRKNSWLKIIISIILPPTILTLEFKSKAEMSHVPQSQDFQFM
WYYSDQNASSSKESASVKEYDLERGHDEKLDENQHFGLESGHQHLPWTRKVYEFYSAPIV
KFWFYTMAYLAFLMLFTYTVLVEMQPQPSVQEWLVSIYIFTNAIEVVREICISEPGKFTQ
KVKVWISEYWNLTETVAIGLFSAGFVLRWGDPPFHTAGRLIYCIDIIFWFSRLLDFFAVN
QHAGPYVTMIAKMTANMFYIVIIMAIVLLSFGVARKAILSPKEPPSWSLARDIVFEPYWM
IYGEVYAGEIDVCSSQPSCPPGSFLTPFLQAVYLFVQYIIMVNLLIAFFNNVYLDMESIS
NNLWKYNRYRYIMTYHEKPWLPPPLILLSHVGLLLRRLCCHRAPHDQEEGDVGLKLYLSK
EDLKKLHDFEEQCVEKYFHEKMEDVNCSCEERIRVTSERVTEMYFQLKEMNEKVSFIKDS
LLSLDSQVGHLQDLSALTVDTLKVLSAVDTLQEDEALLAKRKHSTCKKLPHSWSNVICAE
VLGSMEIAGEKKYQYYSMPSSLLRSLAGGRHPPRVQRGALLEITNSKREATNVRNDQERQ
ETQSSIVVSGVSPNRQAHSKYGQFLLVPSNLKRVPFSAETVLPLSRPSVPDVLATEQDIQ
TEVLVHLTGQTPVVSDWASVDEPKEKHEPIAHLLDGQDKAEQVLPTLSCTPEPMTMSSPL
SQAKIMQTGGGYVNWAFSEGDETGVFSIKKKWQTCLPSTCDSDSSRSEQHQKQAQDSSLS
DNSTRSAQSSECSEVGPWLQPNTSFWINPLRRYRPFARSHSFRFHKEEKLMKICKIKNLS
GSSEIGQGAWVKAKMLTKDRRLSKKKKNTQGLQVPIITVNACSQSDQLNPEPGENSISEE
EYSKNWFTVSKFSHTGVEPYIHQKMKTKEIGQCAIQISDYLKQSQEDLSKNSLWNSRSTN
LNRNSLLKSSIGVDKISASLKSPQEPHHHYSAIERNNLMRLSQTIPFTPVQLFAGEEITV
YRLEESSPLNLDKSMSSWSQRGRAAMIQVLSREEMDGGLRKAMRVVSTWSEDDILKPGQV
FIVKSFLPEVVRTWHKIFQESTVLHLCLREIQQQRAAQKLIYTFNQVKPQTIPYTPRFLE
VFLIYCHSANQWLTIEKYMTGEFRKYNNNNGDEITPTNTLEELMLAFSHWTYEYTRGELL
VLDLQGVGENLTDPSVIKPEVKQSRGMVFGPANLGEDAIRNFIAKHHCNSCCRKLKLPDL
KRNDYSPERINSTFGLEIKIESAEEPPARETGRNSPEDDMQL
GenBank ID Protein Not Available
UniProtKB/Swiss-Prot ID Q9BX84
UniProtKB/Swiss-Prot Entry Name TRPM6_HUMAN
PDB IDs Not Available
GenBank Gene ID AF350881
GeneCard ID TRPM6
GenAtlas ID TRPM6
HGNC ID HGNC:17995
References
General References
  1. Humphray SJ, Oliver K, Hunt AR, Plumb RW, Loveland JE, Howe KL, Andrews TD, Searle S, Hunt SE, Scott CE, Jones MC, Ainscough R, Almeida JP, Ambrose KD, Ashwell RI, Babbage AK, Babbage S, Bagguley CL, Bailey J, Banerjee R, Barker DJ, Barlow KF, Bates K, Beasley H, Beasley O, Bird CP, Bray-Allen S, Brown AJ, Brown JY, Burford D, Burrill W, Burton J, Carder C, Carter NP, Chapman JC, Chen Y, Clarke G, Clark SY, Clee CM, Clegg S, Collier RE, Corby N, Crosier M, Cummings AT, Davies J, Dhami P, Dunn M, Dutta I, Dyer LW, Earthrowl ME, Faulkner L, Fleming CJ, Frankish A, Frankland JA, French L, Fricker DG, Garner P, Garnett J, Ghori J, Gilbert JG, Glison C, Grafham DV, Gribble S, Griffiths C, Griffiths-Jones S, Grocock R, Guy J, Hall RE, Hammond S, Harley JL, Harrison ES, Hart EA, Heath PD, Henderson CD, Hopkins BL, Howard PJ, Howden PJ, Huckle E, Johnson C, Johnson D, Joy AA, Kay M, Keenan S, Kershaw JK, Kimberley AM, King A, Knights A, Laird GK, Langford C, Lawlor S, Leongamornlert DA, Leversha M, Lloyd C, Lloyd DM, Lovell J, Martin S, Mashreghi-Mohammadi M, Matthews L, McLaren S, McLay KE, McMurray A, Milne S, Nickerson T, Nisbett J, Nordsiek G, Pearce AV, Peck AI, Porter KM, Pandian R, Pelan S, Phillimore B, Povey S, Ramsey Y, Rand V, Scharfe M, Sehra HK, Shownkeen R, Sims SK, Skuce CD, Smith M, Steward CA, Swarbreck D, Sycamore N, Tester J, Thorpe A, Tracey A, Tromans A, Thomas DW, Wall M, Wallis JM, West AP, Whitehead SL, Willey DL, Williams SA, Wilming L, Wray PW, Young L, Ashurst JL, Coulson A, Blocker H, Durbin R, Sulston JE, Hubbard T, Jackson MJ, Bentley DR, Beck S, Rogers J, Dunham I: DNA sequence and analysis of human chromosome 9. Nature. 2004 May 27;429(6990):369-74. [PubMed:15164053 ]
  2. Greenman C, Stephens P, Smith R, Dalgliesh GL, Hunter C, Bignell G, Davies H, Teague J, Butler A, Stevens C, Edkins S, O'Meara S, Vastrik I, Schmidt EE, Avis T, Barthorpe S, Bhamra G, Buck G, Choudhury B, Clements J, Cole J, Dicks E, Forbes S, Gray K, Halliday K, Harrison R, Hills K, Hinton J, Jenkinson A, Jones D, Menzies A, Mironenko T, Perry J, Raine K, Richardson D, Shepherd R, Small A, Tofts C, Varian J, Webb T, West S, Widaa S, Yates A, Cahill DP, Louis DN, Goldstraw P, Nicholson AG, Brasseur F, Looijenga L, Weber BL, Chiew YE, DeFazio A, Greaves MF, Green AR, Campbell P, Birney E, Easton DF, Chenevix-Trench G, Tan MH, Khoo SK, Teh BT, Yuen ST, Leung SY, Wooster R, Futreal PA, Stratton MR: Patterns of somatic mutation in human cancer genomes. Nature. 2007 Mar 8;446(7132):153-8. [PubMed:17344846 ]
  3. Riazanova LV, Pavur KS, Petrov AN, Dorovkov MV, Riazanov AG: [Novel type of signaling molecules: protein kinases covalently linked to ion channels]. Mol Biol (Mosk). 2001 Mar-Apr;35(2):321-32. [PubMed:11357414 ]
  4. Schlingmann KP, Weber S, Peters M, Niemann Nejsum L, Vitzthum H, Klingel K, Kratz M, Haddad E, Ristoff E, Dinour D, Syrrou M, Nielsen S, Sassen M, Waldegger S, Seyberth HW, Konrad M: Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family. Nat Genet. 2002 Jun;31(2):166-70. Epub 2002 May 28. [PubMed:12032568 ]
  5. Chubanov V, Waldegger S, Mederos y Schnitzler M, Vitzthum H, Sassen MC, Seyberth HW, Konrad M, Gudermann T: Disruption of TRPM6/TRPM7 complex formation by a mutation in the TRPM6 gene causes hypomagnesemia with secondary hypocalcemia. Proc Natl Acad Sci U S A. 2004 Mar 2;101(9):2894-9. Epub 2004 Feb 19. [PubMed:14976260 ]