LOC101927211
Description:
Loc101927211 is a gene located on chromosome 10q26.3. It encodes a protein that plays a role in the formation of the extracellular matrix, which provides structural support and protection to cells and tissues.
Associated Diseases:
Mutations in loc101927211 have been linked to several human diseases, including:
- Ehlers-Danlos syndrome (EDS) type IV: A rare genetic disorder characterized by joint hypermobility, skin fragility, and tissue elasticity.
- Cutis laxa: A connective tissue disorder that causes loose, wrinkled, and sagging skin.
- Other rare connective tissue disorders: Such as Marfan syndrome, osteogenesis imperfecta, and Weill-Marchesani syndrome.
Did you Know ?
The prevalence of loc101927211 mutations in EDS type IV is estimated to be around 1 in 50,000 individuals worldwide.
