ALDH1A2

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ALDH1A2 (Aldehyde Dehydrogenase 1 Family Member A2) is an enzyme that is encoded by the ALDH1A2 gene in humans. This enzyme is part of the aldehyde dehydrogenase family, which plays a crucial role in the metabolism of retinoic acid, a derivative of vitamin A.

Function

ALDH1A2 is responsible for the oxidation of retinaldehyde to retinoic acid, a process that is essential for the regulation of gene expression during embryonic development and cell differentiation. Retinoic acid acts as a signaling molecule that influences the development of various tissues and organs.

Gene Location

The ALDH1A2 gene is located on chromosome 15 in humans. It spans approximately 40 kilobases and consists of 13 exons.

Clinical Significance

Mutations in the ALDH1A2 gene have been associated with several developmental disorders. Deficiencies in ALDH1A2 activity can lead to abnormalities in embryogenesis, particularly affecting the development of the heart, limbs, and central nervous system.

Related Enzymes

ALDH1A2 is one of several enzymes in the aldehyde dehydrogenase family. Other notable members include ALDH1A1, ALDH2, and ALDH3A1. Each of these enzymes has distinct but sometimes overlapping roles in the metabolism of aldehydes.

Research

Ongoing research is focused on understanding the precise mechanisms by which ALDH1A2 and retinoic acid influence development and disease. Studies are also exploring the potential therapeutic applications of modulating ALDH1A2 activity in various medical conditions.

See Also

• Aldehyde dehydrogenase
• Retinoic acid
• Vitamin A
• Embryonic development
• Cell differentiation
• Chromosome 15

External Links

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