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ABCB7 - ATP binding cassette subfamily B member 7
- Synonym(s) : ASAT, Atm1p, EST140535
- Previous symbols and names : ABC7, ATP-binding cassette, sub-family B (MDR/TAP), member 7
- Type : gene with protein product
- Chromosomal location : Xq13.3
- OMIM: 300135
- HGNC: 48
- UniProtKB: O75027
- Genatlas: ABCB7
- GenCC: ABCB7
- Ensembl: ENSG00000131269
- IUPHAR-DB: 774
- Reactome: O75027
- LOVD: ABCB7
Diseases list
- Disease-causing germline mutation(s) (loss of function) in X-linked sideroblastic anemia and spinocerebellar ataxia
ORPHA:2802 
: AssessedAdditional information
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