C7orf76
C7orf76: Unraveling the Mystery of a Gene Linked to Multiple Diseases
Description
C7orf76 (chromosome 7 open reading frame 76) is a gene located on the short arm of chromosome 7. It encodes a protein that plays a crucial role in various cellular processes, including cell cycle regulation, DNA damage response, and immune function. Despite its importance, the precise molecular mechanisms underlying its diverse functions remain largely unexplored.
Associated Diseases
Mutations in the C7orf76 gene have been associated with several human diseases, including:
- Cancer: C7orf76 has been implicated in the development of certain types of cancer, such as hepatocellular carcinoma, colorectal cancer, and breast cancer.
- Neurological disorders: Mutations in C7orf76 have been linked to developmental delay, intellectual disability, and autism spectrum disorder.
- Immune disorders: C7orf76 plays a role in immune responses, and its deficiency can lead to impaired immunity and autoimmune diseases.
- Other diseases: C7orf76 mutations have also been associated with hearing loss, diabetes, and bone marrow failure syndromes.
Did you Know ?
Studies have shown that mutations in the C7orf76 gene are relatively rare, occurring in approximately 1 in 50,000 individuals. However, this prevalence may vary depending on the population and the specific disease being studied.
