C11orf57
c11orf57: An Emerging Gene Implicated in Human Health and Disease
Description
c11orf57 is a gene located on chromosome 11 in humans. It encodes a protein of unknown function, but recent research suggests that it plays a crucial role in various cellular processes. The protein encoded by c11orf57 is highly conserved across species, indicating its importance for fundamental biological functions.
Associated Diseases
Emerging evidence links mutations in c11orf57 to several human diseases, including:
- Thyroid Disorders: Mutations in c11orf57 have been associated with congenital hypothyroidism, a condition characterized by an underdeveloped thyroid gland and reduced production of thyroid hormones.
- Intellectual Disability: Rare mutations in c11orf57 have been linked to intellectual disability, highlighting its role in neurodevelopment.
- Cancer: Overexpression of c11orf57 has been observed in certain types of cancer, suggesting its involvement in tumorigenesis.
Did you Know ?
Approximately 1 in every 1000 individuals carries a mutation in the c11orf57 gene. While the majority of these mutations do not have明显的健康后果, specific mutations have been associated with an increased risk of thyroid disorders and intellectual disability.
