Search Thermo Fisher Scientific
Immunogen sequence: SVTFGTKSRV GMGGMEAKVK AALWALQGGT SVVIANGTHP KVSGHVITDI VEGKKVGTFF SEVKPAGPTV EQQGEMARSG GRMLATLEPE QRAEIIHHLA DLLTDQRD
Highest antigen sequence identity to the following orthologs: Mouse - 97%, Rat - 97%.
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: aldehyde dehydrogenase 18 family, member A1; Aldehyde dehydrogenase family 18 member A1; Delta-1-pyrroline-5-carboxylate synthase; delta-1-pyrroline-5-carboxylate synthetase; delta1-pyrroline-5-carboxlate synthetase; glutamate gamma-semialdehyde synthetase; MGC117316; P5CS; pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)
基因别名: 2810433K04Rik; ADCL3; AI429789; ALDH18A1; ARCL3A; GSAS; P5CS; PYCS; SPG9A; SPG9B
UniProt ID: (Human) P54886, (Mouse) Q9Z110
Entrez Gene ID: (Human) 5832, (Rat) 361755, (Mouse) 56454