VAPB

Chr 20

VAMP associated protein B and C

Also known as: ALS8, VAMP-B, VAP-B

NCBI Gene: 9217 ENSG00000124164 UniProt: O95292

VAPB encodes an endoplasmic reticulum-anchored protein that mediates contact sites between the ER and endosomes, participates in the unfolded protein response, and regulates cellular calcium homeostasis. Mutations cause late-onset motor neuron diseases including amyotrophic lateral sclerosis 8 and spinal muscular atrophy (Finkel type), with inheritance following an autosomal dominant pattern. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.559).

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a type IV membrane protein found in plasma and intracellular vesicle membranes. The encoded protein is found as a homodimer and as a heterodimer with VAPA. This protein also can interact with VAMP1 and VAMP2 and may be involved in vesicle trafficking. [provided by RefSeq, Jul 2008]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtAmyotrophic lateral sclerosis 8

UniProtSpinal muscular atrophy, proximal, adult, autosomal dominant

Clinical highlights

Gene-disease validity (ClinGen)

amyotrophic lateral sclerosis type 8 · ADDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.56

LOEUF

Multiple*

Mechanism· predicted

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GeneReview available — VAPB