蛋白名称
V-type proton ATPase 116 kDa subunit a isoform 2 (V-ATPase 116 kDa isoform a2) (Lysosomal H(+)-transporting ATPase V0 subunit a2) (TJ6) (Vacuolar proton translocating ATPase 116 kDa subunit a isoform
免疫原
Synthesized peptide derived from part region of human protein
特异性
VPP2 Monoclonal Antibody detects endogenous levels of protein.
组成
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
背景
The protein encoded by this gene is a subunit of the vacuolar ATPase (v-ATPase), an heteromultimeric enzyme that is present in intracellular vesicles and in the plasma membrane of specialized cells, and which is essential for the acidification of diverse cellular components. V-ATPase is comprised of a membrane peripheral V(1) domain for ATP hydrolysis, and an integral membrane V(0) domain for proton translocation. The subunit encoded by this gene is a component of the V(0) domain. Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. [provided by RefSeq, Jul 2009],
功能
caution:The N-terminus peptide may increase IL1B secretion by peripheral blood monocytes; however as this region is probably in the cytosol, the in vivo relevance of this observation needs to be confirmed.,disease:Defects in ATP6V0A2 are a cause of wrinkly skin syndrome; (WSS) [MIM:278250]. WSS is rare autosomal recessive disorder characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple musculoskeletal abnormalities, microcephaly, growth failure and developmental delay.,disease:Defects in ATP6V0A2 are the cause of cutis laxa type II (ARCL type II) [MIM:219200]. ARCL type II is an autosomal recessive disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connec
