LOC101060091
Loc101060091: A Gene Linked to Multiple Diseases and Conditions
Description:
Loc101060091 is a gene located on human chromosome 10q21.3. This gene encodes a protein called ATPase Family, AAA Domain Containing 2 (ATAD2), which plays a crucial role in the regulation of mitochondrial function and cell metabolism.
Associated Diseases:
Mutations in the loc101060091 gene have been linked to a range of diseases and conditions, including:
- Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS): MELAS is a severe mitochondrial disorder that affects the brain, muscles, and other organs. It is caused by mutations in genes that encode proteins involved in mitochondrial function, including loc101060091.
- Leigh Syndrome: Leigh Syndrome is a rare neurodegenerative disorder that typically affects infants and young children. It is caused by mutations in genes that encode proteins involved in mitochondrial function, including loc101060091.
- Hypertrophic Cardiomyopathy (HCM): HCM is a condition in which the heart muscle becomes enlarged and thickened. Mutations in loc101060091 have been found in some cases of HCM.
- Chronic Kidney Disease (CKD): CKD is a condition in which the kidneys lose their ability to function properly. Mutations in loc101060091 have been linked to an increased risk of developing CKD.
Did you Know ?
Approximately 1 in 500,000 people worldwide are estimated to have a mutation in the loc101060091 gene.
