Long-chain-aldehyde dehydrogenase

Source: Wikipedia, the free encyclopedia.
ALDH3A2
Available structures
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Ensembl

ENSG00000072210

ENSMUSG00000010025

UniProt

P51648

P47740

RefSeq (mRNA)

NM_007437
NM_001331114
NM_001331115

RefSeq (protein)

NP_001318043
NP_001318044
NP_031463

Location (UCSC)Chr 17: 19.65 – 19.69 MbChr 11: 61.11 – 61.16 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Fatty aldehyde dehydrogenase (or long-chain-aldehyde dehydrogenase) is an aldehyde dehydrogenase enzyme that in human is encoded in the ALDH3A2 gene on chromosome 17.

aldehydes
that are generated by the metabolism of alcohol and by lipid peroxidation.

Structure

ALDH3A2 belongs to the

superfamily and is a membrane-associated protein typically containing 485 residues. The mature protein functions as a dimer. The structure was resolved using X-ray crystallography at 2.1 Angstrom resolution. It contains an element in the C-terminal region referred to as a "gatekeeper" helix, which is adjacent to the membrane-anchored transmembrane domain and the catalytic core. The gatekeeper helix appears to control access of molecular substrates to the catalytic core and allows efficient transit between membranes and catalytic sites.[5]

Function

ALDH3A2 catalyzes the oxidation of long-chain aliphatic aldehydes into fatty acids. It is known to act on a variety of both saturated and unsaturated aliphatic aldehydes between 6 and 24 carbons in length, as well as dihydrophytal, a 20-carbon branched chain aldehyde.

sphingosine 1-phosphate (S1P) degradation product hexadecenal to hexadecenoic acid. ALD3H2 is expressed in the human liver and has been found to localize the microsome fraction inside the cell.[7]

At least two alternative splicing isoforms of ALDH3A2 are known to exist. The alternative transcript differs by an additional exon and anchors differently to the endoplasmic reticulum vs. the peroxisome [8]

Clinical significance

Mutations and deletions within the ALDH3A2 gene have been widely associated with the autosomal recessive

glycerolipids
and the abnormal accumulation of lipid precursors.

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000072210 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000010025 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. PMID 25047030
    .
  6. PMID 9133646
    .
  7. PMID 9133646
    .
  8. PMID 9027499
    .
  9. PMID 22633490
    .

Further reading


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