Aldehyde Dehydrogenase 18 Family, Member A1 (ALDH18A1) ELISA Kit for Mouse

ALDH18A1: Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine. Defects in ALDH18A1 are the cause of cutis laxa, autosomal recessive, type 3A (ARCL3A). A syndrome characterized by facial dysmorphism with a progeroid appearance, large and late-closing fontanel, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit, developmental delay, and ophthalmologic abnormalities. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 2.7.2.11; EC 1.2.1.41; Kinase, other; Mitochondrial; Oxidoreductase; Amino Acid Metabolism - arginine and proline

Chromosomal Location of Human Ortholog: 10q24.3

Cellular Component: mitochondrion; mitochondrial inner membrane; cytoplasm

Molecular Function: glutamate 5-kinase activity; glutamate-5-semialdehyde dehydrogenase activity; ATP binding

Biological Process: citrulline biosynthetic process; glutamate metabolic process; proline biosynthetic process; ornithine biosynthetic process; amino acid biosynthetic process; phosphorylation

Disease: Cutis Laxa, Autosomal Recessive, Type Iiia