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Protein-coding gene in the species Homo sapiens
Solute carrier family 16 member 12 is a protein that in humans is encoded by the SLC16A12 gene .
[ 5]
This 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].
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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 (July 2010). "Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract" . Invest. Ophthalmol. Vis. Sci . 51 (7): 3354–61. doi :10.1167/iovs.10-5193 . PMC 2904002 . PMID 20181839 .
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 (July 2010). "Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract" . Invest. Ophthalmol. Vis. Sci . 51 (7): 3354–61. doi :10.1167/iovs.10-5193 . PMC 2904002 . PMID 20181839 .
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 (August 2013). "The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter" . Hum. Mol. Genet . 22 (16): 3218–26. doi :10.1093/hmg/ddt175 . PMC 3723308 . PMID 23578822 .
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 (May 2016). "Mutation in the Monocarboxylate Transporter 12 Gene Affects Guanidinoacetate Excretion but Does Not Cause Glucosuria" . J. Am. Soc. Nephrol . 27 (5): 1426–36. doi :10.1681/ASN.2015040411 . PMC 4849831 . PMID 26376857 .
This article incorporates text from the United States National Library of Medicine , which is in the public domain .