SUB1
The sub1 Gene: An Informative and Engaging Guide
Description
The sub1 gene is a crucial gene involved in the metabolism of vitamin B12. It encodes a protein called the sub1 subunit of the human methionine synthase reductase (MTRR) enzyme, which plays a vital role in the conversion of homocysteine to methionine. Methionine is an essential amino acid required for protein synthesis, cell growth, and DNA repair.
Associated Diseases
Mutations in the sub1 gene can lead to several inherited diseases, including:
- Methylmalonic acidemia (MMA): A rare genetic disorder characterized by the accumulation of methylmalonic acid in the body. This can cause developmental delays, seizures, and other neurological problems.
- Homocystinuria: A condition where high levels of homocysteine accumulate in the blood. This can increase the risk of cardiovascular disease, stroke, and neural tube defects.
- Cobalamin C disease: A rare disorder where the body is unable to absorb vitamin B12 properly. This can lead to a variety of health problems, including anemia, neurological symptoms, and gastrointestinal distress.
Did you Know ?
- The prevalence of sub1 gene mutations in the general population is estimated to be around 1 in 10,000 individuals.
