Basic Information

Symbol
TWIST1
RNA class
mRNA
Alias
Twist Family BHLH Transcription Factor 1 H-Twist BHLHa38 BPES2 TWIST CRS1 SCS Twist Basic Helix-Loop-Helix Transcription Factor 1 Class A Basic Helix-Loop-Helix Protein 38 Twist-Related Protein 1 BPES3 ACS3 CRS Blepharophimosis, Epicanthus Inversus And Ptosis 3 Twist Homolog 1 (Drosophila) TWIST Homolog Of Drosophila B-HLH DNA Binding Protein Saethre-Chotzen Syndrome Acrocephalosyndactyly 3 Craniosynostosis Twist Homolog 1 BHLHA38 SWCOS CSO
Location (GRCh38)
7:19020991-19117636
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
-
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_000474.4
Sequence length
1630.0 nt
GC content
0.5718

Transcripts

ID Sequence Length GC content
NM_000474.4 NCBI
AACUCCCAGACACCUCGCGGGCUCUGCAGCACCGGCACCGUUUCCAGGA… 1630 nt 0.5718
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]

Forensic Context

No relevant information is available at the moment.