AL4A1 rabbit pAb

catalytic activity:(S)-1-pyrroline-5-carboxylate + NAD(P)(+) + 2 H(2)O = L-glutamate + NAD(P)H.,disease:Defects in ALDH4A1 are the cause of hyperprolinemia type II (HPII) [MIM:239510]. HPII 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.,function: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.,pathway:Amino-acid degradation; L-proline degradation into L-glutamate; L-glutamate from L-proline: step 2/2.,similarity:Belongs to the aldehyde dehydrogenase family.,subunit:Homodimer.,tissue specificity:Highest expression is found in liver followed by skeletal muscle, kidney, heart, brain, placenta, lung and pancreas.,