Vacuolar Atp Synthase 116 Kd Subunit A Isoform 2

From Anvita Health Wiki

Contents 1 Function 2 Structure 3 Compartment 4 Pathology 5 More General Terms 6 Additional Terms 7 Internet Database 8 References

Function

• component of the proton channel of V-ATPases
• component of the endosomal pH-sensing machinery
• role in maintaining the Golgi functions, including glycosylation maturation, by controlling the Golgi pH ( putative)
• directly interacts with PSCD2 through its N-terminal cytosolic tail (intra- endosomal acidification-dependent); disruption of this interaction results in the inhibition of endocytosis
• phosphorylated upon DNA damage, probably by ATM or ATR

Structure

• belongs to the V-ATPase 116 kD subunit family

Compartment

• cell membrane
• endosome membrane
• in kidney proximal tubules, also detected in subapical vesicles ( putative)

Pathology

• defects in ATP6V0A2 are the cause of

• cutis laxa type 2
• wrinkly skin syndrome

More General Terms

• vacuolar ATP synthase 116 kD subunit a

Additional Terms

• osteopetrosis (Albers-Schonberg disease)

Internet Database

Entrez gene: 23545
Kegg: [1]
OMIM: 219200
OMIM: 278250
OMIM: 611716
UniProt: [2]

References

UniProt [3]

vacuolar proton translocating ATPase 116 kD subunit a, isoform 2; V-ATPase 116 kD isoform a2 (TJ6, ATP6V0A2)