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ATP7A - ATPase copper transporting alpha
- Synonym(s) : copper pump 1, copper-transporting ATPase 1
- Previous symbols and names : ATPase, Cu++ transporting, alpha polypeptide, MNK, Menkes syndrome
- Type : gene with protein product
- Chromosomal location : Xq21.1
- OMIM: 300011
- HGNC: 869
- UniProtKB: Q04656
- Genatlas: ATP7A
- GenCC: ATP7A
- Ensembl: ENSG00000165240
- IUPHAR-DB: 852
- Reactome: Q04656
- LOVD: ATP7A
Diseases list
- Disease-causing germline mutation(s) in Hirschsprung disease
ORPHA:388 
- Disease-causing germline mutation(s) in Occipital horn syndrome
ORPHA:198 - Disease-causing germline mutation(s) in X-linked distal spinal muscular atrophy type 3
ORPHA:139557 - Disease-causing germline mutation(s) (loss of function) in Menkes disease
ORPHA:565
: AssessedAdditional information
Patient-centred resources for this gene
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