ALDH18A1 Antibody – Rabbit Polyclonal

This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. [provided by RefSeq]

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

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