SLC5A12

Chr 11

solute carrier family 5 member 12

Also known as: SMCT2

NCBI Gene: 159963 ENSG00000148942 UniProt: Q1EHB4

The SLC5A12 protein functions as a low-affinity sodium-coupled transporter that mediates reabsorption of monocarboxylates including lactate, pyruvate, and other organic acids in the proximal tubule of the kidney and small intestine. Mutations in SLC5A12 cause autosomal recessive renal lactate wasting, which can lead to metabolic complications due to impaired lactate reabsorption. This gene is not highly constrained against loss-of-function variants, consistent with its recessive inheritance pattern.

ResearchSummary from RefSeq, UniProt

Normal blood lactate is maintained at about 1.5 mM, and little filtered lactate is excreted in urine. Reabsorption of lactate is mediated by the low-affinity Na(+)-coupled lactate transporter SLC5A12 in the initial part of the proximal tubule and by the high-affinity Na(+)-coupled lactate transporter SLC5A8 (MIM 608044) in the distal proximal tubule (Gopal et al., 2007 [PubMed 17692818]).[supplied by OMIM, Dec 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.70

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)