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ACSL4 - acyl-CoA synthetase long chain family member 4
- Synonym(s) : ACS4, LACS4, lignoceroyl-CoA synthase
- Previous symbols and names : 'fatty-acid-Coenzyme A ligase, long-chain 4', 'mental retardation, X-linked 63', 'mental retardation, X-linked 68', FACL4, MRX63, MRX68, fatty-acid-coenzyme a ligase, long-chain 4, mental retardation, x-linked 63, mental retardation, x-linked 68
- Type : gene with protein product
- Chromosomal location : Xq23
- OMIM: 300157
- HGNC: 3571
- UniProtKB: O60488
- Genatlas: ACSL4
- GenCC: ACSL4
- Ensembl: ENSG00000068366
- IUPHAR-DB: -
- Reactome: O60488
- LOVD: ACSL4
Diseases list
- Disease-causing germline mutation(s) in X-linked non-syndromic intellectual disability
ORPHA:777 - Role in the phenotype of Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
ORPHA:86818

Additional information
Patient-centred resources for this gene
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