SLC35A1

Chr 6

solute carrier family 35 member A1

Also known as: CDG2F, CMPST, CST, hCST

NCBI Gene: 10559 ENSG00000164414 UniProt: P78382

The protein transports CMP-sialic acid from the cytosol into the Golgi apparatus, functioning as an antiporter essential for protein glycosylation. Mutations cause congenital disorder of glycosylation type IIf (CDG2F), an autosomal recessive condition affecting multiple organ systems due to defective protein glycosylation. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.461), consistent with its essential role in cellular metabolism.

ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is found in the membrane of the Golgi apparatus, where it transports nucleotide sugars into the Golgi. One such nucleotide sugar is CMP-sialic acid, which is imported into the Golgi by the encoded protein and subsequently glycosylated. Defects in this gene are a cause of congenital disorder of glycosylation type 2F (CDG2F). Two transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Dec 2009]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCongenital disorder of glycosylation 2F

Clinical highlights

Gene-disease validity (ClinGen)

SLC35A1-congenital disorder of glycosylation · ARModerateconsider for supplementary testing

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.46

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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