基因名称(Gene Name)
VAPB UNQ484/PRO983
免疫原
Synthesized peptide derived from human VAPB AA range: 109-159
特异性
This antibody detects endogenous levels of VAPB at Human/Mouse/Rat
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse serum by affinity-chromatography using specific immunogen.
背景
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],
功能
disease:Defects in VAPB are a cause of spinal muscular atrophy autosomal dominant Finkel type (SMAF) [MIM:182980]; also called late-onset spinal muscular atrophy Finkel type or spinal muscular atrophy proximal adult autosomal dominant. Spinal muscular atrophy refers to a group of neuromuscular disorders characterized by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. SMAF 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.,disease:Defects in VAPB are the cause of amyotrophic lateral sclerosis type 8 (ALS8) [MIM:608627]. ALS8 is a familial form of amyotrophic lateral sclerosis, a neurodegenerative disorder affecting upper and l
