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TAF1 - TATA-box binding protein associated factor 1
- Synonym(s) : DYT3/TAF1, KAT4, NSCL2, TAFII250
- Previous symbols and names : BA2R, CCG1, CCGS, DYT3, TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa, TAF2A, TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD, dystonia 3 (with Parkinsonism)
- Type : gene with protein product
- Chromosomal location : Xq13.1
- OMIM: 313650
- HGNC: 11535
- UniProtKB: P21675
- Genatlas: TAF1
- GenCC: TAF1
- Ensembl: ENSG00000147133
- IUPHAR-DB: 2231
- Reactome: P21675
- LOVD: TAF1
Diseases list
- Disease-causing germline mutation(s) in X-linked dystonia-parkinsonism
ORPHA:53351 
- Disease-causing germline mutation(s) in X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
ORPHA:480907
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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