ADH1C
ADH1C[edit | edit source]
ADH1C is a gene that encodes the gamma subunit of the enzyme alcohol dehydrogenase, which is involved in the metabolic process of converting alcohols to aldehydes. This enzyme plays a crucial role in the metabolism of ethanol, a type of alcohol found in alcoholic beverages.
Structure[edit | edit source]
The ADH1C gene is located on chromosome 4q23 and is part of a cluster of alcohol dehydrogenase genes. The protein encoded by ADH1C is a subunit of the class I alcohol dehydrogenase enzyme, which is a dimeric enzyme composed of different subunit combinations, including alpha, beta, and gamma subunits. The gamma subunit encoded by ADH1C contributes to the enzyme's ability to oxidize ethanol to acetaldehyde.
Function[edit | edit source]
The primary function of the ADH1C-encoded enzyme is to catalyze the oxidation of ethanol to acetaldehyde, a reaction that is the first step in the metabolism of alcohol in the liver. This reaction is crucial for the detoxification of alcohol in the body. The enzyme also has activity towards other alcohols and is involved in the metabolism of retinol to retinal, which is important for vitamin A metabolism.
Genetic Variability[edit | edit source]
There are several polymorphisms in the ADH1C gene that affect the enzyme's activity and stability. These genetic variations can influence an individual's alcohol metabolism rate and susceptibility to alcohol-related diseases. For example, certain alleles of ADH1C are associated with faster ethanol metabolism, which can lead to higher levels of acetaldehyde, a toxic metabolite that contributes to the adverse effects of alcohol consumption.
Clinical Significance[edit | edit source]
Variations in the ADH1C gene have been studied in relation to alcohol use disorder, liver disease, and certain types of cancer. Individuals with certain ADH1C genotypes may have an increased risk of developing alcohol-related liver disease due to the accumulation of acetaldehyde. Additionally, the enzyme's role in retinol metabolism links it to conditions related to vitamin A deficiency.
Also see[edit | edit source]
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