Aldehyde dehydrogenase 4 family, member A1

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ALDH4A1
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases ALDH4A1, ALDH4, P5CD, P5CDh, Aldehyde dehydrogenase 4 family, member A1, aldehyde dehydrogenase 4 family member A1
External IDs MGI: 2443883 HomoloGene: 6081 GeneCards: 8659
RNA expression pattern
PBB GE ALDH4A1 203722 at tn.png

PBB GE ALDH4A1 211552 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001161504
NM_003748
NM_170726
NM_001319218

NM_175438

RefSeq (protein)

NP_001154976.1
NP_003739.2
NP_733844.1

NP_780647.3

Location (UCSC) Chr 1: 18.87 – 18.9 Mb Chr 4: 139.62 – 139.65 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the ALDH4A1 gene.[1][2]

This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase that 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.[2]

References[edit]

  1. ^ Hu CA, Lin WW, Valle D (Jun 1996). "Cloning, characterization, and expression of cDNAs encoding human delta 1-pyrroline-5-carboxylate dehydrogenase". J Biol Chem 271 (16): 9795–800. doi:10.1074/jbc.271.16.9795. PMID 8621661. 
  2. ^ a b "Entrez Gene: ALDH4A1 aldehyde dehydrogenase 4 family, member A1". 

Further reading[edit]