SLC35A5

Chr 3

solute carrier family 35 member A5

NCBI Gene: 55032 ENSG00000138459 UniProt: Q9BS91

This gene encodes a transmembrane antiporter that transports UDP-sugars including UDP-glucuronate, UDP-GlcNAc, and UDP-GalNAc from the cytosol into the Golgi lumen for glycosylation processes. Mutations cause congenital disorder of glycosylation type IIc (CDG-IIc), characterized by intellectual disability, seizures, and distinctive facial features with autosomal recessive inheritance. The condition typically presents in early childhood with developmental delays and neurological manifestations.

ResearchSummary from RefSeq, UniProt

This gene encodes a transmembrane protein which belongs to subfamily 35A of the solute carrier superfamily. The encoded protein is a nucleoside-sugar transporter. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.15

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)