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Gene : ATP6V0A2 Homo sapiens

Name  ? ATPase H+ transporting V0 subunit a2 Cytological Location  12q24.31
Brief Description  ATPase H transporting V0 subunit a2
Description  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]
  • synonyms:
  • A2,
  • ATP6V0A2,
  • ARCL,
  • uc001ufr.4,
  • Stv1,
  • ATP6N1D,
  • TJ6M,
  • TJ6s,
  • J6B7,
  • Vph1,
  • TJ6,
  • ATP6A2,
  • ATP6N1D,
  • ATPase, H+ transporting, lysosomal V0 subunit a isoform 2,
  • ATP6a2,
  • OTTHUMG00000168723,
  • infantile malignant osteopetrosis,
  • TJ6,
  • ARCL2A,
  • TJ6M,
  • WSS,
  • a2,
  • TJ6S,
  • J6B7,
  • NM_012463,
  • ATPase, H+ transporting, lysosomal V0 subunit a2,
  • STV1,
  • AF112972,
  • HGNC:18481,
  • ATPase, H+ transporting, lysosomal V0 subunit A2,
  • RTF,
  • VPH1
  • identifiers:
  • 23545,
  • ENSG00000185344,
  • ATP6V0A2

Genome feature

Region: gene ? Length: 49403  
Location: 12:123712353-123761755 Cyto location: 12q24.31

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2 Diseases

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3756 SN Ps

5 Cross References

20 Data Sets

17 Homologues

0 Located Features

97 Rna Seq Results