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Please note: We are reviewing Western blot images included in the antibody testing data in our catalog, including those provided by third parties. Unless expressly labeled or annotated as “raw-unedited”, Western blot images included in the antibody testing data in our catalog may have been edited, optimized or otherwise adjusted for presentation.
Peptide sequence: SVIRHVRSWS NIPFITVPLS RTHGKSFAHR SELKHAKRIV VKLGSAVVTR
Sequence homology: Cow: 100%; Dog: 93%; Guinea Pig: 86%; Horse: 100%; Human: 100%; Mouse: 86%; Pig: 100%; Rabbit: 93%; Rat: 100%; Zebrafish: 92%
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 family 18 member A1; Delta-1-pyrroline-5-carboxylate synthase; MGC117316; P5CS
基因别名: ALDH18A1; GSAS; P5CS; PYCS
Entrez Gene ID: (Human) 5832