C3orf56
c3orf56: Unraveling the Enigma of a Gene Linked to Intriguing Pathologies
Description
c3orf56, also known as chromosome 3 open reading frame 56, is a gene located on the short arm of chromosome 3 in humans. This gene encodes a protein of 224 amino acids that plays a crucial role in various cellular processes. c3orf56 is highly conserved across different species, suggesting its essential nature in maintaining normal cellular function.
Associated Diseases
Mutations in c3orf56 have been implicated in several human diseases, including:
- Autosomal dominant microcephaly (MCPH5): A rare genetic disorder characterized by an abnormally small head size, intellectual disability, and seizures.
- Autism spectrum disorder (ASD): A neurodevelopmental disorder characterized by social and communication difficulties, repetitive behaviors, and restricted interests.
- Schizophrenia: A severe mental illness characterized by hallucinations, delusions, and impaired social functioning.
- Mitochondrial respiratory chain disorders (MRCDs): A group of genetic disorders that affect the function of mitochondria, the energy-producing organelles within cells.
Did you Know ?
Approximately 1 in 10,000 individuals worldwide are affected by autosomal dominant microcephaly, a condition caused by mutations in c3orf56. This statistic highlights the significant impact of this gene on human health.
