ATP6V0A2
Function
Subunit of the V0 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons (By similarity). V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment (By similarity). Essential component of the endosomal pH-sensing machinery (PubMed:16415858). May play a role in maintaining the Golgi functions, such as glycosylation maturation, by controlling the Golgi pH (PubMed:18157129). In aerobic conditions, involved in intracellular iron homeostasis, thus triggering the activity of Fe(2+) prolyl hydroxylase (PHD) enzymes, and leading to HIF1A hydroxylation and subsequent proteasomal degradation (PubMed:28296633).
Involvement in disease
Cutis laxa, autosomal recessive, 2A
ARCL2A
A 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.
None
The disease is caused by variants affecting the gene represented in this entry.
Wrinkly skin syndrome
WSS
A 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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the V-ATPase 116 kDa subunit family.
Cellular localization
- Cell membrane
- Multi-pass membrane protein
- Endosome membrane
- In kidney proximal tubules, also detected in subapical vesicles.
Alternative names
V-type proton ATPase 116 kDa subunit a 2, V-ATPase 116 kDa subunit a 2, Lysosomal H(+)-transporting ATPase V0 subunit a 2, TJ6, Vacuolar proton translocating ATPase 116 kDa subunit a isoform 2, ATP6V0A2