MAT1A
methionine adenosyltransferase 1A
Normal Function
Health Conditions Related to Genetic Changes
Hypermethioninemia
More than 70 variants (also called mutations) in the MAT1A gene have been found in individuals with hypermethioninemia, a condition characterized by an excess of methionine in the body. Most of these variants substitute one amino acid for another amino acid in the methionine adenosyltransferase enzyme, causing it to process methionine less efficiently. Other variants introduce a premature stop signal in the instructions for making the enzyme. As a result, a shortened, nonfunctional enzyme is produced. These alterations reduce the activity of the methionine adenosyltransferase enzyme. A reduction in the enzyme's function results in a buildup of methionine in the body and less efficient AdoMet production, which in severe cases, can cause neurological problems.
More About This Health ConditionRelated Conditions
Hypermethioninemia
Health Conditions Related to Genetic Changes
More than 70 variants (also called mutations) in the MAT1A gene have been found in individuals with hypermethioninemia, a condition characterized by an excess of methionine in the body. Most of these variants substitute one amino acid for another amino acid in the methionine adenosyltransferase enzyme, causing it to process methionine less efficiently. Other variants introduce a premature stop signal in the instructions for making the enzyme. As a result, a shortened, nonfunctional enzyme is produced. These alterations reduce the activity of the methionine adenosyltransferase enzyme. A reduction in the enzyme's function results in a buildup of methionine in the body and less efficient AdoMet production, which in severe cases, can cause neurological problems.