Symbol: Name: ID: |
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2 GFS:7328 |
Gene name: | ATP6V0A2 |
Chromosome: | 12q24.31 |
Previous Symbols: | |
Previous Names: | infantile malignant osteopetrosis, "ATPase, H+ transporting, lysosomal V0 subunit a isoform 2", "ATPase, H+ transporting, lysosomal V0 subunit A2" |
Aliases: | TJ6, a2, TJ6s, TJ6M, ATP6a2, J6B7, ATP6N1D, Vph1, Stv1 |
Name Aliases: | infantile malignant osteopetrosis |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:104855 | Rat Genome Database ID: | RGD:621006 |
HGNC ID: | HGNC:18481 | RefSeq IDs: | NM_012463 |
Entrez Gene ID: | 23545 | Ensembl Gene ID: | ENSG00000185344 |
VEGA IDs: | OTTHUMG00000135666 | UniProt ID: | Q9Y487 |
UCSC ID: | uc001ufr.2 | OMIM ID: | 611716 |
Pubmed: | PMID2247090 PMID 18157129 | ||
CCDS IDs: | CCDSCCDS9254.1 |
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.
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]. Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Function: 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.
Products for ATP6V0A2 gene
Catalog | Product Name | Application | Company |
GFS:E07328 | ATPase, H+ transporting, lysosomal V0 subunit a2; ELISA kit | ELISA | n/a |
GFS:A07328 | ATPase, H+ transporting, lysosomal V0 subunit a2; Anti | ANTIBODIES | n/a |
GFS:P07328 | ATPase, H+ transporting, lysosomal V0 subunit a2; Protien | Protien | n/a |