TWIST1, Official Symbol TWIST1provided by HGNC Official Full Name twist family bHLH transcription factor 1provided by HGNC Primary source HGNC:HGNC:12428 See related Ensembl:ENSG00000122691 MIM:601622; AllianceGenome:HGNC:12428 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as CRS; CSO; SCS; ACS3; CRS1; BPES2; BPES3; SWCOS; TWIST; bHLHa38 Summary This gene encodes a basic helix-loop-helix (bHLH) transcription factor that plays an important role in embryonic development. The encoded protein forms both homodimers and heterodimers that bind to DNA E box sequences and regulate the transcription of genes involved in cranial suture closure during skull development. This protein may also regulate neural tube closure, limb development and brown fat metabolism. This gene is hypermethylated and overexpressed in multiple human cancers, and the encoded protein promotes tumor cell invasion and metastasis, as well as metastatic recurrence. Mutations in this gene cause Saethre-Chotzen syndrome in human patients, which is characterized by craniosynostosis, ptosis and hypertelorism. [provided by RefSeq, Jul 2020] Expression Biased expression in fat (RPKM 17.1), endometrium (RPKM 12.4) and 10 other tissues See more Orthologs mouse all