GORAB

Chr 1AR

golgin, RAB6 interacting

Also known as: GO, NTKLBP1, SCYL1BP1

NCBI Gene: 92344 ENSG00000120370 UniProt: Q5T7V8 OMIM: 607983

The protein is a golgin family member that localizes to the Golgi apparatus and functions in the secretory pathway, with additional cytoplasmic localization suggesting a role in mitosis. Mutations cause geroderma osteodysplasticum, a rare connective tissue disorder affecting skin and bone development, inherited in an autosomal recessive pattern. The gene shows minimal constraint against loss-of-function variants (pLI near 0, LOEUF ~1.0), consistent with its recessive inheritance pattern.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM

This gene encodes a member of the golgin family, a group of coiled-coil proteins localized to the Golgi. The encoded protein may function in the secretory pathway. The encoded protein, which also localizes to the cytoplasm, was identified by interactions with the N-terminal kinase-like protein, and thus it may function in mitosis. Mutations in this gene have been associated with geroderma osteodysplastica. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Geroderma osteodysplasticumMIM #231070

Clinical highlights

Gene-disease validity (ClinGen)

geroderma osteodysplastica · 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

—

P/LP missense

0.99

LOEUF

LOF

Mechanism· G2P

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GeneReview available — GORAB