Solute carrier family 16 member 12
Solute carrier family 16 member 12 is a protein that in humans is encoded by the SLC16A12 gene. [5]
| SLC16A12 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | SLC16A12, CJMG, MCT12, CRT2, solute carrier family 16 member 12, CTRCT47 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 611910 MGI: 2147716 HomoloGene: 130007 GeneCards: SLC16A12 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Function
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].
References
- GRCh38: Ensembl release 89: ENSG00000152779 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000009378 - Ensembl, May 2017
- "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Entrez Gene: Solute carrier family 16 member 12". Retrieved 2018-10-06.
Further reading
- 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 (January 2006). "A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease". Am. J. Hum. Genet. 78 (1): 78–88. doi:10.1086/498851. PMC 1380225. PMID 16385451.
- Kloeckener-Gruissem B, Vandekerckhove K, Nürnberg G, Neidhardt J, Zeitz C, Nürnberg P, Schipper I, Berger W (March 2008). "Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria". Am. J. Hum. Genet. 82 (3): 772–9. doi:10.1016/j.ajhg.2007.12.013. PMC 2427214. PMID 18304496.
- 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.
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