LOC100129427
loc100129427 Gene: Delving into the intricacies of genetics
Description
The loc100129427 gene is located on chromosome 10 in humans. It contains instructions for creating a protein that plays a crucial role in cellular processes, particularly in the regulation of gene expression.
Associated Diseases
Mutations in the loc100129427 gene have been linked to several rare genetic disorders:
- Dystonia-Parkinsonism Syndrome: A neurological disorder characterized by involuntary muscle contractions and parkinsonian symptoms
- Combined Oxidase Deficiency: A metabolic disorder that affects energy production in mitochondria
Did you Know ?
Studies have shown that mutations in the loc100129427 gene are responsible for approximately 10% of cases of dystonia-parkinsonism syndrome worldwide.
