C9orf170
c9orf170: Unraveling the Mystery of a Newly Discovered Gene
Description
c9orf170, also known as chromosome 9 open reading frame 170, is a human gene located on chromosome 9. It contains 20 exons and encodes a protein known as FLJ13972. The c9orf170 gene is involved in various cellular processes, including cell cycle regulation, apoptosis, and DNA damage response.
Associated Diseases
Mutations in the c9orf170 gene have been linked to several rare genetic disorders, including:
- Mikrocephaly with chorioretinal coloboma: This condition is characterized by microcephaly (small head size), severe intellectual disability, and abnormalities in the eyes (chorioretinal coloboma).
- Miller-Dieker syndrome: This rare genetic disorder causes severe intellectual disability, facial dysmorphism, and microcephaly.
- Lissencephaly: A brain malformation characterized by a smooth cerebral surface due to an absence of convolutions (gyri).
Did you Know ?
c9orf170 mutations account for approximately 3-5% of cases of microcephaly with chorioretinal coloboma, making it a relatively rare genetic cause of this condition.
