V-type proton ATPase 116 kDa subunit a isoform 2, also known as V-ATPase 116 kDa isoform a2, is an enzyme that in humans is encoded by the ATP6V0A2 gene. [5] [6] [7]
V-ATPase 116 kDa isoform a2 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 consists 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. [7]
Mutations in this gene are a cause of both cutis laxa type II and wrinkly skin syndrome. [7]
V-type proton ATPase subunit B, kidney isoform is an enzyme that in humans is encoded by the ATP6V1B1 gene.
V-type proton ATPase subunit E 1 is an enzyme that in humans is encoded by the ATP6V1E1 gene.
The TCIRG1 gene encodes for the V-type proton ATPase (V-ATPase) 116 kDa subunit a isoform 3 enzyme.
V-type proton ATPase 16 kDa proteolipid subunit is an enzyme that in humans is encoded by the ATP6V0C gene.
V-type proton ATPase subunit B, brain isoform is an enzyme that in humans is encoded by the ATP6V1B2 gene.
V-type proton ATPase 116 kDa subunit a isoform 4 is an enzyme that in humans is encoded by the ATP6V0A4 gene.
V-type proton ATPase subunit C 1 is an enzyme that in humans is encoded by the ATP6V1C1 gene.
V-type proton ATPase 116 kDa subunit a isoform 1 is an enzyme that in humans is encoded by the ATP6V0A1 gene.
V-type proton ATPase catalytic subunit A is an enzyme that in humans is encoded by the ATP6V1A gene.
V-type proton ATPase subunit d 1 is an enzyme that in humans is encoded by the ATP6V0D1 gene.
V-type proton ATPase subunit G 2 is an enzyme that in humans is encoded by the ATP6V1G2 gene.
V-type proton ATPase subunit H is an enzyme that in humans is encoded by the ATP6V1H gene.
V-type proton ATPase subunit G 1 is an enzyme that in humans is encoded by the ATP6V1G1 gene.
V-type proton ATPase subunit D is an enzyme that in humans is encoded by the ATP6V1D gene.
V-type proton ATPase subunit F is an enzyme that in humans is encoded by the ATP6V1F gene.
V-type proton ATPase subunit G 3 is an enzyme that in humans is encoded by the ATP6V1G3 gene.
V-type proton ATPase 21 kDa proteolipid subunit is an enzyme that in humans is encoded by the ATP6V0B gene.
V-type proton ATPase subunit e 1 is an enzyme that in humans is encoded by the ATP6V0E1 gene.
V-type proton ATPase subunit E 2 is an enzyme that in humans is encoded by the ATP6V1E2 gene.
Wrinkly skin syndrome(WSS) is a rare genetic condition characterized by sagging, wrinkled skin, low skin elasticity, and delayed fontanel (soft spot) closure along with a range of other symptoms. The disorder exhibits an autosomal recessive inheritance pattern with mutations in the ATP6V0A2 gene, leading to abnormal glycosylation events. There are only about 30 known cases of WSS as of 2010. Given its rarity and symptom overlap to other dermatological conditions, reaching an accurate diagnosis is difficult and requires specialized dermatological testing. Limited treatment options are available but long-term prognosis is variable from patient-to-patient, on the basis of individual case studies. Some skin symptoms recede with increasing age while progressive neurological advancement of the disorder causes seizures and mental deterioration later in life for some patients.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.