Aldehyde dehydrogenase 4 family, member A1

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ALDH4A1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesALDH4A1, ALDH4, P5CD, P5CDh, Aldehyde dehydrogenase 4 family, member A1, aldehyde dehydrogenase 4 family member A1
External IDsMGI: 2443883 HomoloGene: 6081 GeneCards: ALDH4A1
Gene location (Human)
Chromosome 1 (human)
Chr.Chromosome 1 (human)[1]
Chromosome 1 (human)
Genomic location for ALDH4A1
Genomic location for ALDH4A1
Band1p36.13Start18,871,430 bp[1]
End18,902,781 bp[1]
RNA expression pattern
PBB GE ALDH4A1 211552 s at fs.png

PBB GE ALDH4A1 203722 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001161504
NM_003748
NM_170726
NM_001319218

NM_175438

RefSeq (protein)

NP_001154976
NP_001306147
NP_003739
NP_733844

NP_780647

Location (UCSC)Chr 1: 18.87 – 18.9 MbChr 4: 139.62 – 139.65 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Delta-1-pyrroline-5-carboxylate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the ALDH4A1 gene.[5][6]

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.[6]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000159423 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000028737 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ 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. 
  6. ^ a b "Entrez Gene: ALDH4A1 aldehyde dehydrogenase 4 family, member A1". 

External links[edit]

Further reading[edit]