C2orf54
C2orf54: A Highly Conserved Gene with Intriguing Roles in Health and Disease
Description
C2orf54, also known as chromosome 2 open reading frame 54, is a gene located on chromosome 2 in humans. It encodes a protein that spans 514 amino acids and has a predicted molecular weight of 59 kDa. C2orf54 is highly conserved across species, with orthologs found in vertebrates, invertebrates, and even yeast.
Associated Diseases
Mutations in the C2orf54 gene have been linked to several diseases, including:
- Mitochondrial Complex I deficiency: Mutations in C2orf54 can impair the function of mitochondrial Complex I, which is essential for energy production in cells. This can lead to Leigh syndrome, a severe neurodegenerative disorder characterized by muscle weakness, seizures, and developmental delays.
- Charcot-Marie-Tooth disease: Mutations in C2orf54 have also been associated with a type of peripheral neuropathy called Charcot-Marie-Tooth disease. Symptoms of this disease include progressive muscle weakness, foot deformities, and sensory impairments.
- Cardiovascular disease: In animal models, C2orf54 deficiency has been shown to contribute to the development of cardiac hypertrophy and heart failure.
Did you Know ?
Studies estimate that approximately 0.01% of the general population carries mutations in the C2orf54 gene. While these mutations are relatively rare, they can have significant health implications for the affected individuals.
