The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use a concentration of 1 - 3 µg/ml. Detects a band of approximately 85 kDa (predicted molecular weight: 87 kDa).
通路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.
疾病相关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.
序列相似性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.
形式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