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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

  : Assessed

Additional information

Patient-centred resources for this gene

Specialised Social Services

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