SLC5A10

Chr 17

solute carrier family 5 member 10

Also known as: SGLT-5, SGLT5

NCBI Gene: 125206 ENSG00000154025 UniProt: A0PJK1 OMIM: 618636

The protein functions as a kidney-specific sodium-dependent transporter that reabsorbs D-mannose and D-fructose from glomerular filtrate across the renal brush border membrane. Mutations in this gene cause autosomal recessive congenital mannose-losing nephropathy, characterized by excessive urinary mannose excretion and associated metabolic complications. The gene shows low constraint against loss-of-function variants (LOEUF 1.039), consistent with the recessive inheritance pattern observed in affected patients.

OMIM ResearchSummary from RefSeq, UniProt

This gene is a member of the sodium/glucose transporter family. Members of this family are sodium-dependent transporters and can be divided into two subfamilies based on sequence homology, one that co-transports sugars and the second that transports molecules such as ascorbate, choline, iodide, lipoate, monocaroboxylates, and pantothenate. The protein encoded by this gene has the highest affinity for mannose and has been reported to be most highly expressed in the kidney. This protein may function as a kidney-specific, sodium-dependent mannose and fructose co-transporter. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.04

LOEUF

Multiple*

Mechanism· predicted