ALDH8A1
ALDH8A1 is a gene that encodes the enzyme aldehyde dehydrogenase 8 family, member A1. This enzyme is part of the aldehyde dehydrogenase (ALDH) family, which plays a crucial role in the metabolism of aldehydes. The ALDH family is involved in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation, as well as in the biosynthesis of retinoic acid, a critical molecule in cellular differentiation and development.
Function[edit | edit source]
The ALDH8A1 enzyme is involved in the oxidation of aldehydes to their corresponding carboxylic acids. This process is essential for the detoxification of aldehydes, which can be toxic to cells if accumulated. The enzyme's activity contributes to various metabolic pathways, including the metabolism of amino acids, lipids, and carbohydrates.
Structure[edit | edit source]
The ALDH8A1 protein is composed of several domains that are characteristic of the ALDH family. These domains include the NAD(P)+ binding domain, which is essential for the enzyme's catalytic activity. The structure of ALDH8A1 allows it to interact with various substrates and catalyze their conversion efficiently.
Expression[edit | edit source]
The expression of ALDH8A1 is regulated at both the transcriptional and post-transcriptional levels. It is expressed in various tissues, including the liver, kidney, and brain. The expression levels can vary depending on the physiological and pathological conditions, such as exposure to alcohol or oxidative stress.
Clinical Significance[edit | edit source]
Mutations in the ALDH8A1 gene can lead to a deficiency in enzyme activity, which may result in the accumulation of toxic aldehydes. This can contribute to the development of various diseases, including neurodegenerative diseases, cancer, and alcohol-related disorders. Understanding the role of ALDH8A1 in these conditions can provide insights into potential therapeutic targets.
Related Enzymes[edit | edit source]
The ALDH family includes several other members, such as ALDH1A1, ALDH2, and ALDH3A1, each with specific functions and tissue distributions. These enzymes collectively contribute to the detoxification of aldehydes and the maintenance of cellular homeostasis.
See Also[edit | edit source]
References[edit | edit source]
External Links[edit | edit source]
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Contributors: Prab R. Tumpati, MD