C14orf37
c14orf37: A Gene with Intriguing Roles in Disease
Description
c14orf37 is a gene located on chromosome 14 in humans. It encodes a protein known as chromosome 14 open reading frame 37 (C14orf37), which plays a fundamental role in various cellular processes, including cell division, DNA repair, and gene expression.
Associated Diseases
Mutations in the c14orf37 gene have been linked to a range of diseases, including:
- Microcephaly: A condition characterized by a small head size and developmental delay.
- Intellectual disability: A disorder that affects cognitive and functional abilities.
- Congenital heart defects: Malformations of the heart that occur before birth.
- Neurodevelopmental disorders: Conditions that impact brain development and function.
Did you Know ?
Approximately 1 in 50,000 individuals are affected by microcephaly caused by mutations in c14orf37, making it one of the most common genetic causes of this condition.
