ALDH4A1 Antibody – Rabbit Polyclonal

This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which 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. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq]

ALDH4A1: Irreversible conversion of delta-1-pyrroline-5- carboxylate (P5C), derived either from proline or ornithine, to glutamate. This is a necessary step in the pathway interconnecting the urea and tricarboxylic acid cycles. The preferred substrate is glutamic gamma-semialdehyde, other substrates include succinic, glutaric and adipic semialdehydes. Defects in ALDH4A1 are the cause of hyperprolinemia type 2 (HP-2). HP-2 is characterized by the accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. The disorder may be causally related to neurologic manifestations, including seizures and mental retardation. Belongs to the aldehyde dehydrogenase family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Amino Acid Metabolism - alanine, aspartate and glutamate; Oxidoreductase; Mitochondrial; Amino Acid Metabolism - arginine and proline; EC 1.2.1.88

Chromosomal Location of Human Ortholog: 1p36

Cellular Component: mitochondrial matrix

Molecular Function: identical protein binding; aldehyde dehydrogenase (NAD) activity; electron carrier activity; 1-pyrroline-5-carboxylate dehydrogenase activity

Biological Process: 4-hydroxyproline catabolic process; proline catabolic process; proline biosynthetic process; glutamate biosynthetic process; proline catabolic process to glutamate; proline metabolic process

Disease: Hyperprolinemia, Type Ii