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TWIST2
SNP Table
| variant | genotype | frequency | risk allele |
|---|---|---|---|
| rs141383935 | |||
| rs528111622 | |||
| rs112018204 | |||
| rs76476130 | |||
| rs3935424 | |||
| rs6731856 | |||
| rs6731975 | |||
| rs75549836 | |||
| rs572819672 | |||
| rs11281830 | |||
| rs114924729 | |||
| rs74000310 | |||
| rs74893715 | |||
| rs75737416 | |||
| rs7580245 | |||
| rs78390745 | |||
| rs78488559 | |||
| rs79748885 | |||
| rs11674577 | |||
| rs76567605 |
Find on This Page
Summary
TWIST2 encodes twist family bHLH transcription factor 2. Variants of TWIST2 may play a role in male-pattern baldness by disrupting the normal development of hair follicles. LLLT, zinc, and L-carnitine may counteract the effects of these variants by stimulating the Wnt signalling pathway.
Protein names
Found in These Blog Articles
More Information
The TWIST2 gene encodes twist family bHLH transcription factor 2. This protein, closely related to TWIST1, regulates the development of some types of cells. Most notably, it slows down the growth of a type of bone cell called osteoblasts. It is also expressed in large quantities in fatty tissues and in the skin [R].
TWIST2 is believed to be a part of the Wnt signaling pathway, which broadly regulates cell growth and division and is typically researched for its link to cancer [R, R, R].
Mutations in TWIST2 cause genetic conditions called Ablepharon macrostomia syndrome (AMS) and Barber Say syndrome (BSS). People born with these conditions may present with [R]:
- Lack of eyelids
- Underdeveloped or absent ears
- Excessive loose skin
- Sparse hair
- Poorly developed nose
- Other abnormally developed body parts
- Poor growth
The severity of these conditions demonstrates just how important TWIST2 is for the normal growth and development of a wide variety of tissues, including skin and hair [R].
Many variants in TWIST2 have significantly less drastic effects. At least three such variants have been associated with male-pattern baldness [R, R, R].
TWIST2 appears to ensure the healthy development of hair follicles. Variants that disrupt the normal function of this gene may lead to poor follicle development and increased susceptibility to hair loss [R].
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