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Immunogen sequence: MLSQVYRCG FQPFNQHLLP WVKCTTVFRS HCIQPSVIRH VRSWSNIPFI TVPLSRTHGK SFAHRSELKH AKRIVVKLGS AVVTRGDECG LALGRLASIV EQVSVLQNQG REMMLVTSGA VAFGKQRLRH EILLSQSVRQ ALHSGQNQLK EMAIPVLEAR ACAAAGQSGL MALYEAMFTQ YSICAAQILV TNLDFHDEQK RRNLNGTLHE LLRMNIVPIV NTNDAVVPPA EPNSDLQGVN VISVKDNDSL AARLAVEMKT DLLIVLSDVE GLFDSPPGSD DAKLIDIFYP GDQQSVTFGI KSRVGMGGME AKVKAALWAL QGGTSVVIAN GTHPKVSGHV ITDIVEGKKV GTFFSEVKPA GPT (1-362 aa encoded by BC106054)
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: 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)
Gene Aliases: 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
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