Aldehyde Dehydrogenase 18 Family, Member A1 Protéines (ALDH18A1)

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 (56) et P5CS Kits (13) et beaucoup plus de produits pour cette protéine.

afficher tous les protéines Gène GeneID UniProt
ALDH18A1 5832 P54886
ALDH18A1 56454 Q9Z110
Rat ALDH18A1 ALDH18A1 361755  
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Catalogue No. Origin Source Conjugué Images Quantité Fournisseur Livraison Prix Détails
Cellules d'insectes Humain His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Connectez-vous pour afficher 70 Days
$13,984.89
Détails
Cellules d'insectes Souris His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Connectez-vous pour afficher 70 Days
$13,984.89
Détails
HEK-293 Cells Humain Myc-DYKDDDDK Tag Validation with Western Blot 20 μg Connectez-vous pour afficher Disponible
$547.80
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Wheat germ Humain GST tag 10 μg Connectez-vous pour afficher 11 to 12 Days
$414.29
Détails

ALDH18A1 Protéines protéines par origine et source

Origin Exprimée danse Conjugué
Human , ,
, ,
Mouse (Murine)

Plus protéines pour Aldehyde Dehydrogenase 18 Family, Member A1 (ALDH18A1) partenaires d'interaction

Human Aldehyde Dehydrogenase 18 Family, Member A1 (ALDH18A1) interaction partners

  1. 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.

  2. 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.

  3. autosomal recessive transmission of ALDH18A1 mutations, and predominant complex hereditary spastic paraplegia with marked cognitive impairment

  4. A frameshift deletion of one nucleotide and a microdeletion affecting the ALDH18A1 gene, respectively, in a homozygous state in both patients, was identified.

  5. expansion of the phenotypic spectrum associated with mutations in ALDH18A1

  6. ALDH18A1 genetic variants are associated with Down syndrome in subjects with dementia of Alzheimer's disease.

  7. These data suggest that P5CS may possess additional uncharacterised functions that affect connective tissue and central nervous system function.

Profil protéine P5CS (ALDH18A1)

Profil protéine

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.

Gene names and symbols associated with ALDH18A1

  • aldehyde dehydrogenase 18 family member A1 (ALDH18A1)
  • aldehyde dehydrogenase 18 family member A1 (aldh18a1)
  • aldehyde dehydrogenase 18 family, member A1 (ALDH18A1)
  • aldehyde dehydrogenase 18 family, member A1 (Aldh18a1)
  • aldehyde dehydrogenase 18 family, member A1 (aldh18a1)
  • aldehyde dehydrogenase 18 family member A1 L homeolog (aldh18a1.L)
  • aldehyde dehydrogenase 18 family member A1 (Aldh18a1)
  • 2810433K04Rik Protéine
  • AI429789 Protéine
  • ALDH18A1 Protéine
  • ARCL3A Protéine
  • cb842 Protéine
  • cb899 Protéine
  • GSAS Protéine
  • P5CS Protéine
  • pycs Protéine
  • sb:cb881 Protéine
  • wu:fa91f10 Protéine
  • wu:fi05f11 Protéine
  • wu:fi17d12 Protéine

Protein level used designations for ALDH18A1

pyrroline-5-carboxylate synthetase , aldehyde dehydrogenase 18 family, member A1 , Delta-1-pyrroline-5-carboxylate synthetase , P5CS , 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

GENE ID SPECIES
450629 Pan troglodytes
550060 Xenopus (Silurana) tropicalis
703357 Macaca mulatta
100061213 Equus caballus
100173488 Pongo abelii
100375273 Saccoglossus kowalevskii
5832 Homo sapiens
56454 Mus musculus
361755 Rattus norvegicus
557186 Danio rerio
444469 Xenopus laevis
423976 Gallus gallus
477781 Canis lupus familiaris
514759 Bos taurus
100151977 Sus scrofa
100352530 Oryctolagus cuniculus
100716882 Cavia porcellus
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