SLC17A5

Chr 6AR

solute carrier family 17 member 5

Also known as: AST, ISSD, NSD, SD, SIALIN, SIASD, SLD, VEAT

NCBI Gene: 26503 ENSG00000119899 UniProt: Q9NRA2 OMIM: 604322

This gene encodes a lysosomal membrane transporter that exports free sialic acid from lysosomes after it has been cleaved from cell surface glycoproteins and glycolipids. Biallelic loss-of-function mutations cause autosomal recessive sialic acid storage diseases, including the severe infantile form (infantile sialic acid storage disorder) and the milder adult-onset Salla disease. The pathogenic mechanism involves defective sialic acid transport leading to lysosomal accumulation of free sialic acid.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes a membrane transporter that exports free sialic acids that have been cleaved off of cell surface lipids and proteins from lysosomes. Mutations in this gene cause sialic acid storage diseases, including infantile sialic acid storage disorder and and Salla disease, an adult form. [provided by RefSeq, Jul 2008]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Salla diseaseMIM #604369

Sialic acid storage disorder, infantileMIM #269920

UniProtInfantile sialic acid storage disorder

Clinical highlights

Gene-disease validity (ClinGen)

free sialic acid storage disease · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.04

LOEUF

LOF

Mechanism· G2P

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GeneReview available — SLC17A5