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SLC33A1 - solute carrier family 33 member 1
- Synonym(s) : AT1, AT-1
- Previous symbols and names : ACATN, SPG42, acetyl-Coenzyme A transporter, solute carrier family 33 (acetyl-CoA transporter), member 1, spastic paraplegia 42 (autosomal dominant)
- Type : gene with protein product
- Chromosomal location : 3q25.31
- OMIM: 603690
- HGNC: 95
- UniProtKB: O00400
- Genatlas: SLC33A1
- GenCC: SLC33A1
- Ensembl: ENSG00000169359
- IUPHAR-DB: 1134
- Reactome: O00400
- LOVD: SLC33A1
Diseases list
- Disease-causing germline mutation(s) in Autosomal dominant spastic paraplegia type 42
ORPHA:171863 
- Disease-causing germline mutation(s) in Congenital cataract-hearing loss-severe developmental delay syndrome
ORPHA:300313
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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