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<p></p> <p><b>New page</b></p><div>&#039;&#039;&#039;ALDH1A3&#039;&#039;&#039; 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.<br /> <br /> == Function ==<br /> <br /> 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.<br /> <br /> == Clinical significance ==<br /> <br /> 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.<br /> <br /> [[File:Human chromosome 15 from Gene Gateway - no label.png|thumb|right|Location of the ALDH1A3 gene on chromosome 15]]<br /> <br /> == See also ==<br /> * [[Aldehyde dehydrogenase]]<br /> * [[Retinoic acid]]<br /> * [[Microphthalmia]]<br /> * [[Anophthalmia]]<br /> * [[Coloboma]]<br /> <br /> == References ==<br /> &lt;references /&gt;<br /> <br /> {{Genes on human chromosome 15}}<br /> {{Aldehyde dehydrogenases}}<br /> {{Eye development genes}}<br /> {{medicine-stub}}<br /> <br /> [[Category:Genes on human chromosome 15]]<br /> [[Category:EC 1.2.1]]<br /> [[Category:Human proteins]]<br /> [[Category:Aldehyde dehydrogenases]]</div>

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