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TWIST2 - twist family bHLH transcription factor 2
- Synonym(s) : bHLHa39, DERMO1, Dermo-1
- Previous symbols and names : Twist homolog 2 (Drosophila), twist basic helix-loop-helix transcription factor 2, twist homolog 2 (Drosophila)
- Type : gene with protein product
- Chromosomal location : 2q37.3
- OMIM: 607556
- HGNC: 20670
- UniProtKB: Q8WVJ9
- Genatlas: TWIST2
- GenCC: TWIST2
- Ensembl: ENSG00000233608
- IUPHAR-DB: -
- Reactome: Q8WVJ9
- LOVD: TWIST2
Diseases list
- Disease-causing germline mutation(s) in Ablepharon macrostomia syndrome
ORPHA:920 
- Disease-causing germline mutation(s) in Barber-Say syndrome
ORPHA:1231 - Disease-causing germline mutation(s) in Focal facial dermal dysplasia type III
ORPHA:1807
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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