C7orf71
c7orf71: Exploring a Gene Linked to Neurological Disorders
Description
c7orf71 is a gene located on chromosome 7 of the human genome. It encodes a protein called chromosome 7 open reading frame 71 (C7orf71). The exact function of C7orf71 is not fully understood, but research suggests it may play a role in brain development and function.
Associated Diseases
Mutations in the c7orf71 gene have been linked to several neurological disorders, including:
- Amyotrophic lateral sclerosis (ALS): ALS is a progressive neurodegenerative disease that affects motor neurons. Mutations in c7orf71 have been identified as the most common genetic cause of familial ALS, accounting for about 5-10% of cases.
- Frontotemporal dementia (FTD): FTD is a group of disorders that affects the frontal and temporal lobes of the brain, leading to changes in personality, behavior, and cognition. Mutations in c7orf71 are associated with a specific form of FTD called FTD-ALS, which combines features of both ALS and FTD.
- Primary lateral sclerosis (PLS): PLS is a neurodegenerative disease that affects the upper motor neurons, causing progressive weakness and stiffness in the limbs. Mutations in c7orf71 have been linked to a rare form of PLS.
Did you Know ?
- Approximately 1 in every 200 people carrying a mutation in the c7orf71 gene will develop ALS or FTD.
