COG1

Chr 17AR

component of oligomeric golgi complex 1

Also known as: CDG2G, LDLB

NCBI Gene: 9382 ENSG00000166685 UniProt: Q8WTW3 OMIM: 606973

COG1 encodes a component of the conserved oligomeric Golgi (COG) complex that is required for normal Golgi morphology and function, particularly in the processing of glycoconjugates. Mutations cause congenital disorder of glycosylation type IIg, which follows autosomal recessive inheritance. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.649), and comprehensive clinical information is available in GeneReviews.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is one of eight proteins (Cog1-8) which form a Golgi-localized complex (COG) required for normal Golgi morphology and function. It is thought that this protein is required for steps in the normal medial and trans Golgi-associated processing of glycoconjugates and plays a role in the organization of the Golgi-localized complex. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Congenital disorder of glycosylation, type IIgMIM #611209

Clinical highlights

Gene-disease validity (ClinGen)

COG1-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

—

P/LP missense

0.65

LOEUF

LOF

Mechanism· G2P