NP_002851.2
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
87,089 Da
NCBI Official Full Name
delta-1-pyrroline-5-carboxylate synthase isoform 1
NCBI Official Synonym Full Names
aldehyde dehydrogenase 18 family member A1
NCBI Official Synonym Symbols
GSAS; P5CS; PYCS; ADCL3; SPG9A; SPG9B; ARCL3A [Similar Products]
NCBI Protein Information
delta-1-pyrroline-5-carboxylate synthase
UniProt Protein Name
Delta-1-pyrroline-5-carboxylate synthase
UniProt Synonym Protein Names
Aldehyde dehydrogenase family 18 member A1Including the following 2 domains:Glutamate 5-kinase (EC:2.7.2.11); GKAlternative name(s):Gamma-glutamyl kinase
UniProt Synonym Gene Names
UniProt Entry Name
P5CS_HUMAN
NCBI Summary for ALDH18A1
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. [provided by RefSeq, Jul 2008]
UniProt Comments for ALDH18A1
ALDH18A1: Bifunctional enzyme that converts glutamate to glutamate 5-semialdehyde, an intermediate in the biosynthesis of proline, ornithine and arginine. Defects in ALDH18A1 are the cause of cutis laxa, autosomal recessive, type 3A (ARCL3A). A syndrome characterized by facial dysmorphism with a progeroid appearance, large and late-closing fontanel, cutis laxa, joint hyperlaxity, athetoid movements and hyperreflexia, pre- and postnatal growth retardation, intellectual deficit, developmental delay, and ophthalmologic abnormalities. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: EC 1.2.1.41; Mitochondrial; EC 2.7.2.11; Amino Acid Metabolism - arginine and proline; Kinase, other; Oxidoreductase
Chromosomal Location of Human Ortholog: 10q24.3
Cellular Component: cytoplasm; mitochondrial inner membrane; mitochondrion
Molecular Function: ATP binding; delta1-pyrroline-5-carboxylate synthetase activity; glutamate 5-kinase activity; glutamate-5-semialdehyde dehydrogenase activity; protein binding
Biological Process: amino acid biosynthetic process; citrulline biosynthetic process; glutamate metabolic process; ornithine biosynthetic process; phosphorylation; proline biosynthetic process
Disease: Cutis Laxa, Autosomal Dominant 3; Cutis Laxa, Autosomal Recessive, Type Iiia; Spastic Paraplegia 9a, Autosomal Dominant; Spastic Paraplegia 9b, Autosomal Recessive
Research Articles on ALDH18A1
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Pathways associated with ALDH18A1 blocking peptide
Diseases associated with ALDH18A1 blocking peptide
Organs/Tissues associated with ALDH18A1 blocking peptide
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