NP_036595
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
98,082 Da
NCBI Official Full Name
V-type proton ATPase 116 kDa subunit a isoform 2
NCBI Official Synonym Full Names
ATPase, H+ transporting, lysosomal V0 subunit a2
NCBI Official Synonym Symbols
A2; RTF; TJ6; WSS; ARCL; J6B7; STV1; TJ6M; TJ6S; VPH1; ARCL2A; ATP6A2; ATP6N1D [Similar Products]
NCBI Protein Information
V-type proton ATPase 116 kDa subunit a isoform 2
UniProt Protein Name
V-type proton ATPase 116 kDa subunit a isoform 2
UniProt Synonym Protein Names
Lysosomal H(+)-transporting ATPase V0 subunit a2; TJ6; Vacuolar proton translocating ATPase 116 kDa subunit a isoform 2
UniProt Synonym Gene Names
UniProt Entry Name
VPP2_HUMAN
NCBI Summary for ATP6V0A2
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]
UniProt Comments for ATP6V0A2
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: Membrane protein, integral; Transporter, ion channel; Membrane protein, multi-pass; Transporter, iron; Transporter; Energy Metabolism - oxidative phosphorylation
Chromosomal Location of Human Ortholog: 12q24.31
Cellular Component: phagocytic vesicle membrane; focal adhesion; lysosomal membrane; cytoplasm; acrosome; plasma membrane; integral to membrane; endosome membrane; vacuolar proton-transporting V-type ATPase complex
Molecular Function: protein binding; hydrogen ion transporting ATPase activity, rotational mechanism; ATPase binding
Biological Process: vacuolar acidification; interaction with host; 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
Research Articles on ATP6V0A2
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Products associated with anti-ATP6V0A2 antibody
Pathways associated with anti-ATP6V0A2 antibody
Diseases associated with anti-ATP6V0A2 antibody
Organs/Tissues associated with anti-ATP6V0A2 antibody
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