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.
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Protein Aliases: Aldehyde dehydrogenase 18 family member A1; aldehyde dehydrogenase 18 family, member A1; aldehyde dehydrogenase 18A1; Aldehyde dehydrogenase family 18 member A1; ARCL3A; Delta-1-pyrroline-5-carboxylate synthase; delta-1-pyrroline-5-carboxylate synthetase; delta1-pyrroline-5-carboxlate synthetase; Gamma-glutamyl kinase; Gamma-glutamyl phosphate reductase; GK; Glutamate 5-kinase; glutamate gamma-semialdehyde synthetase; Glutamate-5-semialdehyde dehydrogenase; Glutamyl-gamma-semialdehyde dehydrogenase; GPR; GSAS; MGC117316; P5CS; PYCS; pyrroline-5-carboxylate synthetase; pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)
Gene Aliases: 2810433K04Rik; ADCL3; AI429789; ALDH18A1; ARCL3A; BOS_23385; cb842; cb899; GSAS; P5CS; PYCS; sb:cb881; SPG9A; SPG9B; wu:fa91f10; wu:fi05f11; wu:fi17d12