Atpase, H+ Transporting, Lysosomal V0 Subunit A2 (ATP6V0A2) ELISA Kit for Human

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]

ATP6V0A2: Part of the proton channel of V-ATPases. Essential component of the endosomal pH-sensing machinery. May play a role in maintaining the Golgi functions, such as glycosylation maturation, by controlling the Golgi pH. Defects in ATP6V0A2 are the cause of cutis laxa autosomal recessive type 2A (ARCL2A). 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 connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. Some affected individuals develop seizures and mental deterioration later in life, whereas the skin phenotype tends to become milder with age. At the molecular level, an abnormal glycosylation of serum proteins is observed in many cases. Defects in ATP6V0A2 are a cause of wrinkly skin syndrome (WSS). 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. Belongs to the V-ATPase 116 kDa subunit family.

Protein type: Transporter, iron; Membrane protein, integral; Transporter; Membrane protein, multi-pass; Energy Metabolism - oxidative phosphorylation; Transporter, ion channel

Chromosomal Location of Human Ortholog: 12q24.31

Cellular Component: phagocytic vesicle membrane; focal adhesion; lysosomal membrane; cytoplasm; plasma membrane; integral to membrane; acrosome; endosome membrane; vacuolar proton-transporting V-type ATPase complex

Molecular Function: protein binding; hydrogen ion transporting ATPase activity, rotational mechanism; ATPase binding

Biological Process: interaction with host; vacuolar acidification; ATP synthesis coupled proton transport; cellular iron ion homeostasis; ATP hydrolysis coupled proton transport; insulin receptor signaling pathway; transferrin transport; immune response; transmembrane transport

Disease: Cutis Laxa, Autosomal Recessive, Type Iia; Wrinkly Skin Syndrome