C5orf42
C5orf42: The Mysterious Gene Linked to Multiple Diseases
Description
C5orf42 is a human gene located on chromosome 5. The protein encoded by this gene is known as chromosome 5 open reading frame 42 (C5orf42). The exact function of C5orf42 is still not fully understood, but it is believed to play a role in various cellular processes.
Associated Diseases
C5orf42 has been linked to several diseases and conditions, including:
- Amyotrophic lateral sclerosis (ALS): ALS is a neurodegenerative disease that affects motor neurons, leading to progressive muscle weakness and paralysis. C5orf42 mutations have been identified in some cases of familial ALS.
- Frontotemporal dementia (FTD): FTD is a group of disorders that affect the frontal and temporal lobes of the brain, resulting in progressive cognitive and behavioral changes. C5orf42 mutations have been linked to a form of FTD known as FTD with TDP-43 inclusions.
- Alzheimer's disease (AD): AD is a neurodegenerative disease that causes progressive memory loss and cognitive decline. C5orf42 has been suggested to interact with proteins involved in AD pathogenesis, but its role in the disease is still unclear.
- Parkinson's disease (PD): PD is a neurodegenerative disease that affects movement and coordination. C5orf42 has been implicated in PD, but the exact nature of its involvement is not yet known.
Did you Know ?
According to a study published in the journal Neurology, mutations in the C5orf42 gene account for approximately 2-3% of familial ALS cases.
