SLC15A1

Chr 13

solute carrier family 15 member 1

Also known as: HPECT1, HPEPT1, PEPT1

NCBI Gene: 6564 ENSG00000088386 UniProt: P46059 OMIM: 600544

The protein functions as an intestinal hydrogen-peptide cotransporter that mediates the uptake of dietary di- and tripeptides from the small intestinal lumen into enterocytes, playing a crucial role in protein digestion and absorption. Mutations in this gene cause autosomal recessive congenital short bowel syndrome, a severe intestinal disorder typically presenting in the neonatal period. The gene shows low constraint against loss-of-function variants, consistent with the recessive inheritance pattern observed clinically.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes an intestinal hydrogen peptide cotransporter that is a member of the solute carrier family 15. The encoded protein is localized to the brush border membrane of the intestinal epithelium and mediates the uptake of di- and tripeptides from the lumen into the enterocytes. This protein plays an important role in the uptake and digestion of dietary proteins. This protein also facilitates the absorption of numerous peptidomimetic drugs. [provided by RefSeq, Apr 2010]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.89

LOEUF

Mechanism· predicted