| 释义 |
- Function
- References
- Further reading
{{Infobox_gene}}Solute carrier family 16 member 12 is a protein that in humans is encoded by the SLC16A12 gene. [1]FunctionThis gene encodes a transmembrane transporter that likely plays a role in monocarboxylic acid transport. A mutation in this gene has been associated with juvenile cataracts with microcornea and renal glucosuria. [provided by RefSeq, Mar 2010]. References 1. ^{{cite web| title = Entrez Gene: Solute carrier family 16 member 12| url = https://www.ncbi.nlm.nih.gov/gene/387700| accessdate = 2018-10-06}}
Further reading {{refbegin | 2}}- {{cite journal |vauthors=Grupe A, Li Y, Rowland C, Nowotny P, Hinrichs AL, Smemo S, Kauwe JS, Maxwell TJ, Cherny S, Doil L, Tacey K, van Luchene R, Myers A, Wavrant-De Vrièze F, Kaleem M, Hollingworth P, Jehu L, Foy C, Archer N, Hamilton G, Holmans P, Morris CM, Catanese J, Sninsky J, White TJ, Powell J, Hardy J, O'Donovan M, Lovestone S, Jones L, Morris JC, Thal L, Owen M, Williams J, Goate A |title=A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease |journal=Am. J. Hum. Genet. |volume=78 |issue=1 |pages=78–88 |date=January 2006 |pmid=16385451 |pmc=1380225 |doi=10.1086/498851 |url=}}
- {{cite journal |vauthors=Kloeckener-Gruissem B, Vandekerckhove K, Nürnberg G, Neidhardt J, Zeitz C, Nürnberg P, Schipper I, Berger W |title=Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria |journal=Am. J. Hum. Genet. |volume=82 |issue=3 |pages=772–9 |date=March 2008 |pmid=18304496 |pmc=2427214 |doi=10.1016/j.ajhg.2007.12.013 |url=}}
- {{cite journal |vauthors=Zuercher J, Neidhardt J, Magyar I, Labs S, Moore AT, Tanner FC, Waseem N, Schorderet DF, Munier FL, Bhattacharya S, Berger W, Kloeckener-Gruissem B |title=Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract |journal=Invest. Ophthalmol. Vis. Sci. |volume=51 |issue=7 |pages=3354–61 |date=July 2010 |pmid=20181839 |pmc=2904002 |doi=10.1167/iovs.10-5193 |url=}}
- {{cite journal |vauthors=Zuercher J, Neidhardt J, Magyar I, Labs S, Moore AT, Tanner FC, Waseem N, Schorderet DF, Munier FL, Bhattacharya S, Berger W, Kloeckener-Gruissem B |title=Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract |journal=Invest. Ophthalmol. Vis. Sci. |volume=51 |issue=7 |pages=3354–61 |date=July 2010 |pmid=20181839 |pmc=2904002 |doi=10.1167/iovs.10-5193 |url=}}
- {{cite journal |vauthors=Abplanalp J, Laczko E, Philp NJ, Neidhardt J, Zuercher J, Braun P, Schorderet DF, Munier FL, Verrey F, Berger W, Camargo SM, Kloeckener-Gruissem B |title=The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter |journal=Hum. Mol. Genet. |volume=22 |issue=16 |pages=3218–26 |date=August 2013 |pmid=23578822 |pmc=3723308 |doi=10.1093/hmg/ddt175 |url=}}
- {{cite journal |vauthors=Dhayat N, Simonin A, Anderegg M, Pathare G, Lüscher BP, Deisl C, Albano G, Mordasini D, Hediger MA, Surbek DV, Vogt B, Sass JO, Kloeckener-Gruissem B, Fuster DG |title=Mutation in the Monocarboxylate Transporter 12 Gene Affects Guanidinoacetate Excretion but Does Not Cause Glucosuria |journal=J. Am. Soc. Nephrol. |volume=27 |issue=5 |pages=1426–36 |date=May 2016 |pmid=26376857 |pmc=4849831 |doi=10.1681/ASN.2015040411 |url=}}
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