VAPB
Description
The VAPB (VAMP associated protein B and C) is a protein-coding gene located on chromosome 20.
VAPB (Vesicle-associated membrane protein-associated protein B/C) is a protein encoded by the VAPB gene located on human chromosome 20. It forms part of the VAP protein family, along with VAPA. VAPB is a type IV membrane protein found in plasma and intracellular vesicle membranes. It exists as both a homodimer and a heterodimer with VAPA. VAPB interacts with VAMP1 and VAMP2, potentially playing a role in vesicle trafficking. Mutations in VAPB are linked to familial forms of motor neuron disease, also known as amyotrophic lateral sclerosis (ALS) or Lou Gehrig's disease.
VAPB is an endoplasmic reticulum (ER)-anchored protein that mediates the formation of contact sites between the ER and endosomes via interaction with FFAT motif-containing proteins such as STARD3 or WDR44. VAPB interacts with STARD3 in a FFAT motif phosphorylation-dependent manner. Through interaction with WDR44, VAPB participates in neosynthesized protein export. VAPB plays a role in the endoplasmic reticulum unfolded protein response (UPR) by inducing ERN1/IRE1 activity. VAPB is involved in the regulation of cellular calcium homeostasis.
VAPB is also known as ALS8, VAMP-B, VAP-B.
Associated Diseases
- Autosomal dominant adult-onset proximal spinal muscular atrophy
- Amyotrophic lateral sclerosis 8
- Amyotrophic lateral sclerosis
- Spinal muscular atrophy, late-onset, Finkel type
