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Aldehyde Dehydrogenase 4 Family, Member A1 (ALDH4A1)

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ALDH4; P5CD; P5CDh; P5CDhL; P5CDhS; Delta-1-Pyrroline-5-Carboxylate Dehydrogenase,Mitochondrial; L-glutamate gamma-semialdehyde dehydrogenase

Aldehyde Dehydrogenase 4 Family, Member A1 (ALDH4A1)
CCC E834
HGNC 406
MGI 2443883
PubMed 22516612
UniProt P30038
Wiki ALDH4A1
ALDH4A1 belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Two transcript variants encoding the same protein have been identified for this gene.
The P5CD cDNA encodes a 563-amino acid protein with a putative 24-amino acid N-terminal mitochondrial targeting sequence, which, when cleaved, yields a mature monomer of 539 amino acids.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Aldehyde Dehydrogenase 4 Family, Member A1 (ALDH4A1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Aldehyde Dehydrogenase 4 Family, Member A1 (ALDH4A1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Aldehyde Dehydrogenase 4 Family, Member A1 (ALDH4A1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Aldehyde Dehydrogenase 4 Family, Member A1 (ALDH4A1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Aldehyde Dehydrogenase 4 Family, Member A1 (ALDH4A1) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Aldehyde Dehydrogenase 4 Family, Member A1 (ALDH4A1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Aldehyde Dehydrogenase 4 Family, Member A1 (ALDH4A1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Aldehyde Dehydrogenase 4 Family, Member A1 (ALDH4A1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Aldehyde Dehydrogenase 4 Family, Member A1 (ALDH4A1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Aldehyde Dehydrogenase 4 Family, Member A1 (ALDH4A1) ELISA Kit Customized Service Offer
  1. "Cloning, characterization, and expression of cDNAs encoding human delta 1-pyrroline-5-carboxylate dehydrogenase."J. Biol. Chem. 271:9795-9800(1996) [PubMed] [Europe PMC] [Abstract]
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "The DNA sequence and biological annotation of human chromosome 1." Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  5. "Human liver glutamic gamma-semialdehyde dehydrogenase: structural relationship to the yeast enzyme."Comp. Biochem. Physiol. 102B:791-793(1992) [PubMed] [Europe PMC] [Abstract]
  6. "Human liver protein map: a reference database established by microsequencing and gel comparison."Electrophoresis 13:992-1001(1992) [PubMed] [Europe PMC] [Abstract]
  7. "Human liver high Km aldehyde dehydrogenase (ALDH4): properties and structural relationship to the glutamic gamma-semialdehyde dehydrogenase."Adv. Exp. Med. Biol. 328:191-197(1993) [PubMed] [Europe PMC] [Abstract]
  8. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
  9. "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
  10. "The three-dimensional structural basis of type II hyperprolinemia."J. Mol. Biol. 420:176-189(2012) [PubMed] [Europe PMC] [Abstract]
  11. "Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia."Hum. Mol. Genet. 7:1411-1415(1998) [PubMed] [Europe PMC] [Abstract]