Solute Carrier Family 16 (Monocarboxylic Acid Transporter), Member 12

Alternative Names

  • SLC16A12
  • Monocarboxylate Transporter 12
  • MCT12

Associated Diseases

Cataract 47
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OMIM Number

611910

NCBI Gene ID

387700

Uniprot ID

Q6ZSM3

Length

126,406 bases

No. of Exons

11

No. of isoforms

1

Protein Name

Monocarboxylate transporter 12

Molecular Mass

56498 Da

Amino Acid Count

516

Genomic Location

chr10:89,430,299-89,556,704

Gene Map Locus
10q23.31

Description

This gene encodes a transmembrane transporter that likely plays a role in monocarboxylic acid transport. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_213606.4:c.404C>TSaudi ArabiaNC_000010.11:g.89441152G>ALikely PathogenicPathogenicCataract 47NG_021179.1:g.99405C>T; NM_213606.4:c.404C>T; NP_998771.3:p.Ala135Val786205460191007
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