Aldehyde dehydrogenase 4 family, member A1

src: rstb.royalsocietypublishing.org

Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the ALDH4A1 gene.

This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase that catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Two transcript variants encoding the same protein have been identified for this gene.

Video Aldehyde dehydrogenase 4 family, member A1

References

Maps Aldehyde dehydrogenase 4 family, member A1

External links

• Human ALDH4A1 genome location and ALDH4A1 gene details page in the UCSC Genome Browser.

src: jpet.aspetjournals.org

Further reading

Source of article : Wikipedia