VAPB gene

VAMP associated protein B and C

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Participates in the endoplasmic reticulum unfolded protein response (UPR) by inducing ERN1/IRE1 activity. Involved in cellular calcium homeostasis regulation.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Amyotrophic lateral sclerosis type 8
  • Adult proximal spinal muscular atrophy, autosomal dominant

From UniProt:

Spinal muscular atrophy, proximal, adult, autosomal dominant (SMAPAD): A form of spinal muscular atrophy, a neuromuscular disorder characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMAPAD is characterized by proximal muscle weakness that begins in the lower limbs and then progresses to upper limbs, onset in late adulthood (after third decade) and a benign course. Most of the patients remain ambulatory 10 to 40 years after clinical onset. [MIM:182980]

Amyotrophic lateral sclerosis 8 (ALS8): A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. [MIM:608627]

Cytogenetic Location: 20q13.32, which is the long (q) arm of chromosome 20 at position 13.32

Molecular Location: base pairs 58,389,211 to 58,451,101 on chromosome 20 (Homo sapiens Updated Annotation Release 109.20190905, GRCh38.p13) (NCBI)

Cytogenetic Location: 20q13.32, which is the long (q) arm of chromosome 20 at position 13.32
  • ALS8
  • VAMP-B
  • VAP-B