ALDH1A1


Description

The ALDH1A1 (aldehyde dehydrogenase 1 family member A1) is a protein-coding gene located on chromosome 9.

ALDH1A1, also known as ALDH1A1 or retinaldehyde dehydrogenase 1 (RALDH1), is an enzyme encoded by the ALDH1A1 gene. It belongs to the aldehyde dehydrogenase family and plays a critical role in alcohol metabolism, particularly in the liver. ALDH1A1 exists as a cytosolic isoform, which has a lower affinity for aldehydes than the mitochondrial isoform. The absence of the mitochondrial isoform in East Asians may contribute to their higher susceptibility to alcohol intoxication. Mutations in ALDH1A1 have also been linked to alcoholism. ALDH1A1 is also a corneal crystallin, helping maintain corneal transparency. It plays a role in cancer stem cell maintenance, and drugs targeting ALDH1A1 are being developed to treat cancer stem cells.

ALDH1A1 is a cytosolic dehydrogenase that catalyzes the irreversible oxidation of various aldehydes into their corresponding carboxylic acids. It plays a crucial role in the metabolism of retinol (vitamin A) by converting retinaldehyde to retinoic acid. This process is essential for regulating retinol and retinoic acid levels, which are important for development and cell signaling. ALDH1A1 also detoxifies harmful aldehydes produced by lipid peroxidation, like HNE, malonaldehyde, and hexanal, preventing their accumulation and cytotoxic effects. Additionally, it participates in the fructosamine degradation pathway by oxidizing 3-deoxyglucosone, a potent glycating agent. ALDH1A1 has aminobutyraldehyde dehydrogenase activity and is involved in GABA synthesis, potentially playing a role in GABAergic synaptic transmission. It forms a homotetramer and interacts with PRMT3, which inhibits its aldehyde dehydrogenase activity.

ALDH1A1 is also known as ALDC, ALDH-E1, ALDH1, ALDH11, HEL-9, HEL-S-53e, HEL12, PUMB1, RALDH1.

Associated Diseases


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