Home > Gene Browser > SLC15A1

SLC15A1

Synonyms
HPECT1, HPEPT1, PEPT1
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
4,935
Likely benign
4,335
Benign
0

Patient phenotypes

No patients carry pathogenic or likely pathogenic variants on SLC15A1 gene.

Phenotype class
Patients in 3billion (%)

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