Amino-acid biosynthesis; L-proline biosynthesis; L-glutamate 5-semialdehyde from L-glutamate: step 1/2. Amino-acid biosynthesis; L-proline biosynthesis; L-glutamate 5-semialdehyde from L-glutamate: step 2/2.
Defects in ALDH18A1 are the cause of mental retardation-joint hypermobility-skin laxity with or without metabolic abnormalities (MRJHSL) [MIM:612652]. Clinical manifestations include microcephaly, progressive neurologic dysfunction, mental retardation, progeroid appearance, joint hypermobility, skin laxity and hyperelasticity, cataracts. Some patients manifest metabolic disturbances such as hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia.
In the N-terminal section; belongs to the glutamate 5-kinase family. In the C-terminal section; belongs to the gamma-glutamyl phosphate reductase family.
P5CS catalyzes the ATP- and NADPH-dependent conversion of L-glutamate to glutamic gamma-semialdehyde, which is the metabolic precursor for proline biosynthesis. There are 2 isoforms produced by alternative splicing.
Aldehyde dehydrogenase 18 family member A1 antibody
Aldehyde dehydrogenase 18A1 antibody
Aldehyde dehydrogenase family 18 member A1 antibody