GORAB
Chr 1ARgolgin, RAB6 interacting
Also known as: GO, NTKLBP1, SCYL1BP1
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.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GORAB · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools