FAM26F
Description
FAM26F is a gene that plays a crucial role in the development and function of various tissues in the body, particularly the skin, hair, and nails. This gene encodes a protein known as family with sequence similarity 26, member F, which is involved in the regulation of cell growth, differentiation, and apoptosis.
Associated Diseases
Mutations or abnormalities in the FAM26F gene have been linked to several genetic disorders, including:
- Ectodermal Dysplasia with Skin Fragility and Atopic Dermatitis (EDA-SFAD): This is a rare genetic condition characterized by impaired development of the skin, hair, and nails. Individuals with EDA-SFAD may have thin and fragile skin, sparse hair or hair loss, and nail abnormalities.
- Focal Dermal Hypoplasia (FDH): This is a rare condition that affects the development of the skin and underlying connective tissue. Symptoms of FDH can include skin depressions or lesions, abnormal pigmentation, and delayed development of teeth and nails.
- Isolated Nail Dysplasia (IND): This is a condition that specifically affects the development of the nails, causing them to be thick, discolored, and deformed. IND can be inherited or acquired due to environmental factors.
- Nail-Patella Syndrome (NPS): This is a rare genetic disorder that affects the development of nails, kneecaps, and elbows. Individuals with NPS may have small or absent kneecaps, nail abnormalities (including thick and deformed nails), and elbow abnormalities.
Did you Know ?
- EDA-SFAD affects approximately 1 in 100,000 newborns worldwide.
