LOC102724776
Loc102724776: A Comprehensive Guide
Description
Loc102724776 is a protein-coding gene located on chromosome 22q13.1. It encodes a protein of 328 amino acids that plays a crucial role in various cellular processes. Loc102724776 is mainly expressed in the heart, skeletal muscle, and liver. It is involved in the assembly and maintenance of the mitochondrial respiratory chain, a complex system that provides energy to cells.
Associated Diseases
Mutations in the Loc102724776 gene have been linked to several genetic disorders, including:
- Mitochondrial Complex I Deficiency: This is a rare condition characterized by impaired function of mitochondrial complex I, a component of the respiratory chain. Symptoms may include muscle weakness, seizures, developmental delays, and heart problems.
- Infantile Hypertrophic Cardiomyopathy with Early Onset and Lactic Acidosis: This is a severe form of hypertrophic cardiomyopathy that develops in infancy. It is caused by mutations in the Loc102724776 gene that lead to abnormal mitochondrial function and impaired energy production.
Did you Know ?
- Mutations in the Loc102724776 gene are estimated to affect approximately 1 in 50,000 individuals worldwide.
