C14orf80
c14orf80: A Gene with Intriguing Implications in Health and Disease
Description
c14orf80 is a gene located on chromosome 14 that encodes a protein of the same name. This protein is involved in various cellular processes, including RNA metabolism, cell division, and DNA repair. Its precise role and function are still being actively researched.
Associated Diseases
Mutations in the c14orf80 gene have been implicated in several diseases, including:
- Microcephaly: A condition characterized by abnormally small head size and developmental delays.
- Intellectual disability: A wide range of cognitive impairments that affect daily functioning.
- Autism spectrum disorder (ASD): A complex neurodevelopmental condition that affects social communication, behavior, and cognition.
- Schizophrenia: A severe mental disorder that disrupts thinking, emotion, and behavior.
Did you Know ?
Approximately 1 in 100,000 individuals worldwide are affected by microcephaly caused by c14orf80 mutations. This highlights the rarity of this genetic condition.
