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TWIST1

Gene

twist family bHLH transcription factor 1

HGNCHGNC:12428EnsemblENSG00000122691NCBI Gene7291
Locus: gene with protein productLocation: 7p21.1

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asACS3 · BPES3 · TWIST · CRS · SCS · H-twist · BPES2 · CRS1 · bHLHa38
View full nomenclature history (15)
Previous symbolsACS3, BPES3, TWIST, CRS
Alias symbolsSCS, H-twist, BPES2, CRS1, bHLHa38
Previous namesacrocephalosyndactyly 3, twist homolog 1 (Drosophila), twist basic helix-loop-helix transcription factor 1, craniosynostosis, blepharophimosis, epicanthus inversus and ptosis 3
Alias namesSaethre-Chotzen syndrome

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Neurodegenerative Diseases
Alopecia
Genetic Diseases, Inborn
Atrial Fibrillation

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

Basic helix-loop-helix proteins

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-01-20.
Open TargetsGene–disease associations from the Open Targets Platform.