Twist Transcription Factor (TWIST)

ACS3; BPES2; BPES3; SCS; Class A basic helix-loop-helix protein 38; Acrocephalosyndactyly 3; Saethre-Chotzen Syndrome; Blepharophimosis,Epicanthus Inversus And Ptosis 3

SPN	U019
HGNC	12428
MGI	98872
PubMed	15210113
RGD	621455
UniProt	Q15672
Wiki	TWIST

Twist transcription factor is a basic-helix-loop-helix transcription factor associated with Saethre-Chotzen syndrome.Basic helix-loop-helix (bHLH) transcription factors have been implicated in cell lineage determination and differentiation. The protein encoded by this gene is a bHLH transcription factor and shares similarity with another bHLH transcription factor, Dermo1. In the embryo, highly expressed in chondrogenic cells. In embryonic skin, expressed in the undifferentiated mesenchymal layer beneath the epidermis which later develops into the dermis. Expressed in early myeloid cells but not in lymphoid cells in the liver. Expression also detected in the secretory ependymal epithelium of the choroid plexus primordium. In the adult, expressed in secreting glandular tissues and tubules.

Reference

"Cloning of the human twist gene: its expression is retained in adult mesodermally-derived tissues."
Gene 187:83-92(1997) [PubMed] [Europe PMC] [Abstract]

"The human H-twist gene is located at 7p21 and encodes a B-HLH protein that is 96% similar to its murine M-twist counterpart."
Mamm. Genome 7:915-917(1996) [PubMed] [Europe PMC] [Abstract]

"Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome."
Nat. Genet. 15:36-41(1997) [PubMed] [Europe PMC] [Abstract]

"Translocation breakpoint maps 5 kb 3-prime from TWIST in a patient affected with Saethre-Chotzen syndrome."
Hum. Mol. Genet. 6:1079-1086(1997) [PubMed] [Europe PMC] [Abstract]

"The DNA sequence of human chromosome 7."
Nature 424:157-164(2003) [PubMed] [Europe PMC] [Abstract]

"Human chromosome 7: DNA sequence and biology."
Science 300:767-772(2003) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Twist regulates cytokine gene expression through a negative feedback loop that represses NF-kappaB activity."
Cell 112:169-180(2003) [PubMed] [Europe PMC] [Abstract]

"Mutations of the TWIST gene in the Saethre-Chotzen syndrome."
Nat. Genet. 15:42-46(1997) [PubMed] [Europe PMC] [Abstract]

"Another TWIST on Baller-Gerold syndrome."
Am. J. Med. Genet. 104:323-330(2001) [PubMed] [Europe PMC] [Abstract]

"Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations."
Am. J. Med. Genet. A 143:678-686(2007) [PubMed] [Europe PMC] [Abstract]