ALDH1A3

ALDH1A3 is a gene that encodes the enzyme aldehyde dehydrogenase 1 family member A3. This enzyme is part of the aldehyde dehydrogenase family, a group of enzymes that metabolize aldehydes into their corresponding acids. ALDH1A3 is particularly important in the retinoic acid synthesis pathway, which plays a crucial role in vertebrate development.

Function

The ALDH1A3 enzyme is involved in the oxidation (dehydrogenation) of retinaldehyde to retinoic acid. Retinoic acid is a metabolite of vitamin A that mediates the functions of vitamin A required for growth and development. ALDH1A3 is primarily expressed in the ventral region of the neural tube, and is involved in the early stages of central nervous system development.

Clinical significance

Mutations in the ALDH1A3 gene have been associated with a number of disorders. These include microphthalmia, a condition characterized by abnormally small eyes, and anophthalmia, the absence of one or both eyes. Both of these conditions can lead to significant vision loss. Mutations in ALDH1A3 have also been linked to coloboma, a condition where normal tissue in or around the eye is missing at birth.

Location of the ALDH1A3 gene on chromosome 15

See also

• Aldehyde dehydrogenase
• Retinoic acid
• Microphthalmia
• Anophthalmia
• Coloboma