Aldehyde dehydrogenase 4 family, member A1

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Aldehyde dehydrogenase 4 family, member A1
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols ALDH4A1 ; ALDH4; P5CD; P5CDh
External IDs OMIM606811 MGI2443883 HomoloGene6081 GeneCards: ALDH4A1 Gene
EC number 1.5.1.12
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 8659 212647
Ensembl ENSG00000159423 ENSMUSG00000028737
UniProt P30038 Q8CHT0
RefSeq (mRNA) NM_001161504 NM_175438
RefSeq (protein) NP_001154976 NP_780647
Location (UCSC) Chr 1:
19.2 – 19.23 Mb
Chr 4:
139.62 – 139.65 Mb
PubMed search [1] [2]

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]