Twist-related protein 2 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''TWIST2''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
The protein encoded by this gene is a
basic helix-loop-helix
Basic or BASIC may refer to:
Science and technology
* BASIC, a computer programming language
* Basic (chemistry), having the properties of a base
* Basic access authentication, in HTTP
Entertainment
* ''Basic'' (film), a 2003 film
* Basic, one ...
(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 (genetics), transcription of genetics, genetic information from DNA to messenger RNA, by binding t ...
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 combining forms for " bone", ὀστέο-, ''osteo-'' and βλαστάνω, ''blastanō'' "germinate") are cells with a single nucleus that synthesize bone. However, in the process of bone formation, osteoblasts fu ...
development, this protein may inhibit osteoblast maturation and maintain cells in a preosteoblast phenotype.
Interactions
TWIST2 has been shown to
interact 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
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External links
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Transcription factors
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