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ABCD1 - ATP binding cassette subfamily D member 1
- Synonym(s) : adrenoleukodystrophy, ALDP, AMN
- Previous symbols and names : ALD, ATP-binding cassette, sub-family D (ALD), member 1
- Type : gene with protein product
- Chromosomal location : Xq28
- OMIM: 300371
- HGNC: 61
- UniProtKB: P33897
- Genatlas: ABCD1
- GenCC: ABCD1
- Ensembl: ENSG00000101986
- IUPHAR-DB: 788
- Reactome: P33897
- LOVD: ABCD1
Diseases list
- Disease-causing germline mutation(s) in Adrenomyeloneuropathy
ORPHA:139399 
- Disease-causing germline mutation(s) in Hirschsprung disease
ORPHA:388 - Disease-causing germline mutation(s) in X-linked cerebral adrenoleukodystrophy
ORPHA:139396 - Role in the phenotype of CADDS
ORPHA:369942
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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