ATP6AP2 wt Allele

**Semantic type:** Gene or Genome

**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.

**Synonyms:** - APT6M8-9 - ATP6IP2 - ATP6M8-9 - ATPase H+ Transporting Accessory Protein 2 wt Allele - ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump) Membrane Sector Associated Protein M8-9 Gene - ATPase, H+ Transporting, Lysosomal Accessory Protein Gene - ATPase, H+ Transporting, Lysosomal Interacting Protein 2 Gene - CAPER - CDG2R - ELDF10 - HT028 - M8-9 - M8-9, Bovine, Homolog of Gene - MRXE - MRXSH - MSTP009 - PRR - PSEC0072 - RENR - XMRE - XPDS