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ATP6AP2 - ATPase H+ transporting accessory protein 2
- Synonym(s) : APT6M8-9, ATP6M8-9, M8-9, prorenin receptor, PRR, renin receptor, RENR, V-ATPase M8.9 subunit
- Previous symbols and names : ATP6IP2, ATPase, H+ transporting, lysosomal accessory protein 2, ATPase, H+ transporting, lysosomal interacting protein 2
- Type : gene with protein product
- Chromosomal location : Xp11.4
- OMIM: 300556
- HGNC: 18305
- UniProtKB: O75787
- Genatlas: ATP6AP2
- GenCC: ATP6AP2
- Ensembl: ENSG00000182220
- IUPHAR-DB: -
- Reactome: O75787
- LOVD: ATP6AP2
Diseases list
- Disease-causing germline mutation(s) in X-linked intellectual disability, Hedera type
ORPHA:93952 
- Disease-causing germline mutation(s) in X-linked parkinsonism-spasticity syndrome
ORPHA:363654
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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