C16orf97
c16orf97: A Gene of Intriguing Significance
Description
c16orf97 is a gene located on chromosome 16, spanning a region of approximately 91,000 base pairs. It encodes a protein of 529 amino acids with a molecular weight of approximately 58 kDa. The exact function of c16orf97 is still under investigation, but studies have suggested its involvement in several cellular processes, including:
- Cell proliferation and apoptosis: c16orf97 has been implicated in regulating cell division and programmed cell death.
- DNA repair: It may play a role in maintaining genomic stability by participating in DNA damage response pathways.
- Immune response: c16orf97 has been associated with immune cell function, particularly in the context of inflammation and immune surveillance.
Associated Diseases
Mutations in c16orf97 have been linked to a range of disorders, including:
- Autism spectrum disorder (ASD): Studies have found an increased prevalence of c16orf97 mutations in individuals with ASD, suggesting a potential role in the development of the condition.
- Intellectual disability: Mutations in c16orf97 have been associated with intellectual disability, particularly in cases where developmental delay and language impairment are present.
- Microcephaly: Individuals with c16orf97 mutations may exhibit microcephaly, a condition characterized by an abnormally small head circumference.
- Congenital heart defects: Some individuals with c16orf97 mutations have been reported to have congenital heart defects, such as atrial septal defect and patent ductus arteriosus.
Did you Know ?
A large-scale genetic study involving over 50,000 individuals found that a particular variant of the c16orf97 gene was associated with an increased risk of developing autism spectrum disorder (ASD) by approximately 15%.
