RFT1

Chr 3

RFT1 glycolipid translocator homolog

Also known as: CDG1N, SLC76A1

NCBI Gene: 91869 ENSG00000163933 UniProt: Q96AA3

This gene encodes an enzyme that translocates dolichol-linked oligosaccharide intermediates across the endoplasmic reticulum membrane during protein N-glycosylation. Mutations cause congenital disorder of glycosylation type In, which follows autosomal recessive inheritance. The gene is not highly constrained against loss-of-function variants, consistent with the recessive inheritance pattern of this glycosylation disorder.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes an enzyme which catalyzes the translocation of the Man(5)GlcNAc (2)-PP-Dol intermediate from the cytoplasmic to the luminal side of the endoplasmic reticulum membrane in the pathway for the N-glycosylation of proteins. Mutations in this gene are associated with congenital disorder of glycosylation type In.[provided by RefSeq, Dec 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCongenital disorder of glycosylation 1N

Clinical highlights

Gene-disease validity (ClinGen)

RFT1-congenital disorder of glycosylation · ARModerateconsider for supplementary testing

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

1.09

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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