C15orf65
C15orf65: A Comprehensive Overview
Description
C15orf65 is a gene located on chromosome 15 that encodes a protein called chromosome 15 open reading frame 65 (C15orf65). This protein is involved in various cellular processes, including DNA damage response, cell cycle regulation, and cellular metabolism.
Associated Diseases
Mutations in the C15orf65 gene have been linked to several diseases, including:
- Myelodysplastic syndromes (MDS): MDS are a group of blood disorders characterized by abnormal production of blood cells. Mutations in C15orf65 are associated with a specific subtype of MDS called myelodysplastic syndrome with ring sideroblasts (MDS-RS).
- Acute myeloid leukemia (AML): AML is a type of cancer that starts in the bone marrow. C15orf65 mutations are present in approximately 10% of AML cases.
- Zellweger syndrome: Zellweger syndrome is a rare genetic disorder that affects the development of the brain, liver, and other organs. Mutations in C15orf65 have been identified as a cause of Zellweger syndrome.
- Microcephaly: Microcephaly is a birth defect characterized by an abnormally small head size. C15orf65 mutations have been associated with a specific form of microcephaly called microcephaly with reduced gyri.
Did you Know ?
Approximately 1 in 100,000 individuals have a mutation in the C15orf65 gene.
