VAPA/VAPB Antibodies

靶标信息

VAPA/VAPB may play a role in vesicle trafficking. Present in the plasma membrane and in intracellular vesicles. Interacts with VAMP1 and VAMP2. Subunit: Homodimer, and heterodimer with VAPA. Subcellular Location: Cell membrane; Single-pass type IV membrane protein. Intracytoplasmic membrane; Single-pass type IV membrane protein. Tissue Specificity: Ubiquitous. Isoform 1 predominates. Disease: Defects in VAPB are the cause of amyotrophic lateral sclerosis type 8 (ALS8). ALS8 is a familial form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper and lower motor neurons and resulting in fatal paralysis. Sensory abnormalities are absent. Death usually occurs within 2 to 5 years. 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 cases leading to familial forms. Defects in VAPB are a cause of proximal adult autosomal dominant spinal muscular atrophy; also called late-onset spinal muscular atrophy Finkel type. Spinal muscular atrophies are neurodegenerative disorders characterized by degeneration of lower motor neurons, leading to progressive paralysis muscular atrophy. This form is a late- adult-onset form of the disease (after age 20 years). The patients show a benign course, most of them remaining ambulatory 10 to 40 years after clinical onset.