Search for a gene
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
- Type : gene with protein product
- Chromosomal location : 7p21.1
- OMIM: 601622
- HGNC: 12428
- UniProtKB: Q15672
- Genatlas: TWIST1
- Ensembl: ENSG00000122691
- IUPHAR-DB: -
- Reactome: Q15672
- LOVD: TWIST1
Diseases list
- Disease-causing germline mutation(s) in Isolated brachycephaly
ORPHA:35099 
- Disease-causing germline mutation(s) in Isolated plagiocephaly
ORPHA:35098 - Disease-causing germline mutation(s) in Isolated scaphocephaly
ORPHA:35093 - Disease-causing germline mutation(s) (loss of function) in Saethre-Chotzen syndrome
ORPHA:794
: AssessedAdditional information
Health care resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.