C3orf30
C3orf30: The Enigmatic Gene Linked to Neurodevelopmental Disorders and Cancer
Description
C3orf30 (chromosome 3 open reading frame 30) is a gene located on the human chromosome 3. It encodes a protein of 603 amino acids with unknown function. C3orf30 is highly conserved across species, suggesting its importance in cellular processes.
Associated Diseases
C3orf30 has been implicated in several neurodevelopmental disorders:
- Intellectual Disability: Mutations in C3orf30 have been linked to intellectual disability, characterized by difficulties in learning, social interactions, and daily living skills.
- Autism Spectrum Disorder (ASD): C3orf30 mutations are associated with an increased risk of ASD, a condition characterized by social and communication challenges.
- Mitochondrial Disorders: C3orf30 mutations can disrupt mitochondrial function, leading to mitochondrial disorders, which affect energy production in cells.
C3orf30 has also been linked to cancer:
- Colorectal Cancer: Reduced C3orf30 expression has been observed in colorectal cancer, suggesting that it may act as a tumor suppressor.
- Lung Cancer: Mutations in C3orf30 have been associated with an increased risk of lung cancer.
Did you Know ?
- Approximately 1 in 5,000 individuals carry a mutation in C3orf30.
