FAM65C
fam65c: A Comprehensive Overview
Description:
fam65c, also known as family with sequence similarity 65, member C, is a protein encoded by the FAM65C gene in humans. It is a transmembrane protein located on chromosome 19q13.11 and consists of 136 amino acids. fam65c is highly conserved across species, suggesting its essential role in cellular processes.
Associated Diseases:
Disruptions in FAM65C function have been implicated in several diseases, including:
- Cohen Syndrome: A rare genetic disorder characterized by distinctive facial features, intellectual disability, and growth retardation.
- Kabuki Syndrome: Another rare genetic disorder with overlapping features with Cohen Syndrome, including facial dysmorphism and developmental delays.
- Congenital Heart Defects: Mutations in FAM65C have been associated with an increased risk of heart defects in newborns.
- Cancer: fam65c has been found to play a role in cell growth and differentiation, and dysregulation of its expression has been linked to the development of certain cancers, such as lung and breast cancer.
Did you Know ?
- Mutations in FAM65C are estimated to affect approximately 1 in 200,000 individuals worldwide.
