V-ATPase 116 kDa isoform a2, is an enzyme that in humans is encoded by the ATP6V0A2 gene. V-ATPase 116 kDa isoform a2 is a subunit of the vacuolar ATPase (v-ATPase)...

exhibits an autosomal recessive inheritance pattern with mutations in the ATP6V0A2 gene, leading to abnormal glycosylation events. There are only about 30...

extracellular matrix. Cutis laxa may be caused by mutations in the genes: ELN, ATP6V0A2, ATP7A, FBLN4, FBLN5, and PYCR1. A related neurocutaneous syndrome may...

ATP6V1E1, ATP6V1E2, ATP6V1F, ATP6V1G1, ATP6V1G2, ATP6V1G3, ATP6V1H, ATP6V0A1, ATP6V0A2, ATP6V0A4, ATP6V0B, ATP6V0C, ATP6V0D1, ATP6V0D2, ATP6V0E Cu++ transporting:...

and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2". Nature Genetics. 40 (1): 32–4. doi:10.1038/ng.2007.45. PMID 18157129...

Vo Subunits Subunit Human Gene Note a/I ATP6V0A1, ATP6V0A2, ATP6V0A4 c ATP6V0B, ATP6V0C Ring of varied size. d/C ATP6V0D1, ATP6V0D2 e ATP6V0E1, ATP6V0E2...

shown that De Barsy syndrome may be related to mutations in ATP6V0A2 gene, known as ATP6V0A2-CDG by the new naming system. Alternative names for De Barsy...

Q96LB4 1275 ATP6V1H HGNC:18303 Q9UI12 1276 ATP6V0A1 HGNC:865 Q93050 1277 ATP6V0A2 HGNC:18481 Q9Y487 1278 ATP6V0A4 HGNC:866 Q9HBG4 1279 ATP6V0B HGNC:861 Q99437...

sapiens ATPase, H+ transporting, lysosomal interacting protein 1 (ATP6IP1), ATP6V0A2 NM_012463 ATP6V0B NM_004047 Homo sapiens ATPase, H+ transporting, lysosomal...

is caused by mutations in several different genes. These genes include ATP6V0A2, ATP7A, EFEMP2, ELN, and FBLN5. These genes are responsible for elastic...

type I; 219100; EFEMP2 Cutis laxa, autosomal recessive, type II; 219200; ATP6V0A2 Cutis laxa, autosomal recessive, type IIB; 612940; PYCR1 Cutis laxa, recessive...