Solute carrier family 16 member 12

SLC16A12
Identifiers
Aliases	SLC16A12, CJMG, MCT12, CRT2, solute carrier family 16 member 12, CTRCT47
External IDs	OMIM: 611910; MGI: 2147716; HomoloGene: 130007; GeneCards: SLC16A12; OMA:SLC16A12 - orthologs
Gene location (Human) Chr. Chromosome 10 (human) Band 10q23.31 Start 89,430,299 bp End 89,556,641 bp
Gene location (Mouse) Chr. Chromosome 19 (mouse) Band 19|19 C1 Start 34,645,803 bp End 34,724,689 bp
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in body of pancreas islet of Langerhans placenta tibial nerve human kidney testicle apex of heart left ventricle right auricle of heart right lung Top expressed in transitional epithelium of urinary bladder epithelium of lens Epithelium of choroid plexus human kidney ciliary body atrium islet of Langerhans right kidney lacrimal gland iris More reference expression data BioGPS n/a
Gene ontology Molecular function creatine transmembrane transporter activity symporter activity monocarboxylic acid transmembrane transporter activity Cellular component integral component of membrane plasma membrane integral component of plasma membrane membrane Biological process transmembrane transport monocarboxylic acid transport creatine transmembrane transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 387700 240638 Ensembl ENSG00000152779 ENSMUSG00000009378 UniProt Q6ZSM3 Q8BGC3 RefSeq (mRNA) NM_213606 NM_172838 RefSeq (protein) NP_998771 NP_766426 Location (UCSC) Chr 10: 89.43 – 89.56 Mb Chr 19: 34.65 – 34.72 Mb PubMed search
Wikidata
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Solute carrier family 16 member 12 is a protein that in humans is encoded by the SLC16A12 gene.

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].

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.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.