loading...| Preferred Name |
ATP6AP2 wt Allele |
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C178260 |
| code |
C178260 |
| DEFINITION |
Human ATP6AP2 wild-type allele is located in the vicinity of Xp11.4 and is approximately 27 kb in length. This allele, which encodes renin receptor protein, is involved in angiotensin processing and lysosome acidification. Missense mutations in the gene are associated with congenital disorder of glycosylation type 2R and splicing mutations are associated with X-linked, Hedera type syndromic mental retardation and X-linked Parkinsonism with spasticity. |
| EntrezGene_ID |
10159 |
| FULL_SYN |
PRR XPDS RENR HT028 M8-9 ATP6AP2 wt Allele M8-9, Bovine, Homolog of Gene XMRE MRXSH ATP6M8-9 APT6M8-9 ELDF10 ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump) Membrane Sector Associated Protein M8-9 Gene CAPER ATPase H+ Transporting Accessory Protein 2 wt Allele ATPase, H+ Transporting, Lysosomal Interacting Protein 2 Gene MSTP009 ATPase, H+ Transporting, Lysosomal Accessory Protein Gene PSEC0072 MRXE ATP6IP2 CDG2R |
| GenBank_Accession_Number |
AF248966 |
| label |
ATP6AP2 wt Allele |
| NCI_META_CUI |
CL1647953 |
| OMIM_Number |
300556 |
| Preferred_Name |
ATP6AP2 wt Allele |
| prefixIRI |
Thesaurus:C178260 |
| prefLabel |
ATP6AP2 wt Allele |
| Semantic_Type |
Gene or Genome |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| There are currently no mappings for this class. | |||