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TWIST1 - twist family bHLH transcription factor 1
- Synonym(s) : bHLHa38, BPES2, CRS1, H-twist, Saethre-Chotzen syndrome, SCS
- Previous symbols and names : ACS3, BPES3, CRS, TWIST, Twist homolog 1 (Drosophila), acrocephalosyndactyly 3, blepharophimosis, epicanthus inversus and ptosis 3, craniosynostosis, twist basic helix-loop-helix transcription factor 1, twist homolog 1 (Drosophila)
- Type : gene with protein product
- Chromosomal location : 7p21.1
- OMIM: 601622
- HGNC: 12428
- UniProtKB: Q15672
- Genatlas: TWIST1
- GenCC: TWIST1
- Ensembl: ENSG00000122691
- IUPHAR-DB: -
- Reactome: Q15672
- LOVD: TWIST1
Diseases list
- Disease-causing germline mutation(s) in Non-syndromic bicoronal craniosynostosis
ORPHA:35099 
- Disease-causing germline mutation(s) in Non-syndromic sagittal craniosynostosis
ORPHA:35093 - Disease-causing germline mutation(s) (loss of function) in Saethre-Chotzen syndrome
ORPHA:794
: AssessedAdditional information
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