NHLH2
NHLH2: The Gene Linked to Hair Loss
Description
NHLH2 (NHL repeat containing 2) is a gene that plays a crucial role in the development and maintenance of hair follicles. It belongs to the NHL repeat family, which is associated with several cellular processes, including transcriptional regulation and protein-protein interactions. NHLH2 is specifically involved in the epithelial differentiation and survival of hair follicle progenitor cells.
Mutations in the NHLH2 gene can lead to hair loss conditions, such as hypotrichosis and alopecia. Hypotrichosis is characterized by abnormally thin and sparse hair, while alopecia refers to the complete loss of hair from specific areas of the body or the entire scalp.
Associated Diseases
The NHLH2 gene is primarily associated with the following hair loss conditions:
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Recessive Hypotrichosis with Juvenile Macular Dystrophy (HJMD): HJMD is an inherited condition caused by mutations in the NHLH2 gene. It manifests as severe hair loss on the scalp, eyebrows, and eyelashes from a young age. Additionally, individuals with HJMD may develop progressive macular dystrophy, a condition that affects the central vision.
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Hypotrichosis Lymphedema Telangiectasia (HLT): HLT is another rare inherited disorder linked to NHLH2 mutations. It is characterized by sparse hair, swelling in the lower limbs (lymphedema), and dilated blood vessels (telangiectasia). Other symptoms may include intellectual disability, hearing loss, and heart defects.
Did you Know ?
Studies have shown that mutations in the NHLH2 gene are a relatively common cause of congenital hypotrichosis, accounting for about 10-15% of cases. This highlights the importance of NHLH2 in hair follicle development.
