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ALDH18A1 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. De plus, nous expédions P5CS Anticorps (52) et P5CS Kits (12) et beaucoup plus de produits pour cette protéine.
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This is the first report of an individual with ALDH18A1-ADCL due to a substitution at a residue other than p.Arg138. Knowledge of the complete spectrum of dominant-acting mutations that cause this rare syndrome will have implications for molecular diagnosis and genetic counselling of these families.
ALDH18A1 gene during vertebrate and invertebrate evolution and a proposal for generating the bifunctional vertebrate and invertebrate ALDH18A1 gene from a bacterial operon (proBA) encoding glutamyl kinase and glutamyl phosphate reductase.
autosomal recessive transmission of ALDH18A1 mutations, and predominant complex hereditary spastic paraplegia with marked cognitive impairment
A frameshift deletion of one nucleotide and a microdeletion affecting the ALDH18A1 gene, respectively, in a homozygous state in both patients, was identified.
expansion of the phenotypic spectrum associated with mutations in ALDH18A1
ALDH18A1 genetic variants are associated with Down syndrome in subjects with dementia of Alzheimer's disease.
These data suggest that P5CS may possess additional uncharacterised functions that affect connective tissue and central nervous system function.
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.
, aldehyde dehydrogenase 18 family, member A1
, Delta-1-pyrroline-5-carboxylate synthetase
, aldehyde dehydrogenase 18A1
, aldehyde dehydrogenase family 18 member A1
, delta-1-pyrroline-5-carboxylate synthase
, aldehyde dehydrogenase 18A1-like
, delta-1-pyrroline-5-carboxylate synthetase
, delta1-pyrroline-5-carboxlate synthetase
, pyrroline-5-carboxylate synthetase (glutamate gamma-semialdehyde synthetase)
, glutamate gamma-semialdehyde synthetase