ADH1A
ADH1A[edit | edit source]
ADH1A (Alcohol Dehydrogenase 1A) is a gene that encodes an enzyme belonging to the alcohol dehydrogenase family. This enzyme is involved in the metabolic process of converting alcohols into aldehydes, a crucial step in the metabolism of ethanol and other alcohols in the human body.
Structure[edit | edit source]
The ADH1A gene is located on chromosome 4q21.1 and is part of a cluster of alcohol dehydrogenase genes. The enzyme encoded by ADH1A is a homodimer, meaning it consists of two identical subunits. Each subunit contains a zinc ion, which is essential for its catalytic activity.
Function[edit | edit source]
ADH1A plays a significant role in the metabolism of ethanol, converting it into acetaldehyde, which is then further metabolized by aldehyde dehydrogenase into acetic acid. This process is crucial for the detoxification of alcohol in the liver. The enzyme also acts on a variety of other substrates, including retinol, which is converted into retinal, a form of vitamin A.
Clinical Significance[edit | edit source]
Mutations or polymorphisms in the ADH1A gene can affect the enzyme's activity and are associated with variations in alcohol metabolism among individuals. These genetic variations can influence an individual's susceptibility to alcohol-related diseases, such as alcoholism and alcoholic liver disease.
Expression[edit | edit source]
ADH1A is primarily expressed in the liver, but it is also found in other tissues such as the stomach and lungs. Its expression can be influenced by factors such as age, sex, and exposure to alcohol.
Evolution[edit | edit source]
The ADH1A gene is part of a larger family of alcohol dehydrogenase genes that have evolved through gene duplication events. This family includes other members such as ADH1B and ADH1C, which also play roles in alcohol metabolism.
Also see[edit | edit source]
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