TSPAN12

TSPAN12 is a protein that in humans is encoded by the TSPAN12 gene. It is a member of the tetraspanin superfamily, which is known for its role in cell development, activation, growth and motility. TSPAN12 is involved in the regulation of cell development and can influence various processes such as proliferation, differentiation, and adhesion.

Function

TSPAN12 is a transmembrane protein that is involved in the regulation of cell development. It is known to interact with other proteins, such as ADAM10, to influence cell proliferation, differentiation, and adhesion. TSPAN12 is also involved in the regulation of angiogenesis, the process by which new blood vessels form from pre-existing vessels.

Clinical significance

Mutations in the TSPAN12 gene are associated with Familial exudative vitreoretinopathy (FEVR), a hereditary disorder that can cause progressive vision loss. This condition is characterized by the failure of peripheral retinal vascularization, which can lead to retinal detachment and blindness.

See also

• Tetraspanin
• Familial exudative vitreoretinopathy
• ADAM10
• Angiogenesis

External links

• NCBI Gene
• UniProt