Twist-related protein 2 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, res ...
that in humans is encoded by the ''TWIST2''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
The protein encoded by this gene is a
basic helix-loop-helix
BASIC (Beginners' All-purpose Symbolic Instruction Code) is a family of general-purpose, high-level programming languages designed for ease of use. The original version was created by John G. Kemeny and Thomas E. Kurtz at Dartmouth College ...
(bHLH)
transcription factor
In molecular biology, a transcription factor (TF) (or sequence-specific DNA-binding factor) is a protein that controls the rate of transcription of genetic information from DNA to messenger RNA, by binding to a specific DNA sequence. The f ...
and shares similarity with another bHLH transcription factor,
TWIST1. bHLH transcription factors have been implicated in cell lineage determination and differentiation. It is thought that during
osteoblast
Osteoblasts (from the Greek language, Greek combining forms for "bone", ὀστέο-, ''osteo-'' and βλαστάνω, ''blastanō'' "germinate") are cell (biology), cells with a single Cell nucleus, nucleus that synthesize bone. However, in the p ...
development, this protein may inhibit osteoblast maturation and maintain cells in a preosteoblast phenotype.
Interactions
TWIST2 has been shown to
interact
Advocates for Informed Choice, doing business as, dba interACT or interACT Advocates for Intersex Youth, is a 501(c)(3) nonprofit organization using innovative strategies to advocate for the legal and human rights of children with intersex trai ...
with
SREBF1.
Clinical significance
Mutations in the ''TWIST2'' gene that alter DNA-binding activity through both
dominant-negative and gain-of-function effects are associated with
ablepharon macrostomia syndrome and
Barber–Say syndrome.
References
Further reading
*
*
*
*
*
*
*
*
*
External links
*
Transcription factors
{{protein-stub