ADH5

Last updated
ADH5
Protein ADH5 PDB 1m6h.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases ADH5 , ADH-3, ADHX, FALDH, FDH, GSH-FDH, GSNOR, HEL-S-60p, alcohol dehydrogenase 5 (class III), chi polypeptide, BMFS7, AMEDS
External IDs OMIM: 103710 MGI: 87929 HomoloGene: 68076 GeneCards: ADH5
Orthologs
SpeciesHumanMouse
Entrez

128

11532

Ensembl

ENSG00000197894

ENSMUSG00000028138

UniProt

P11766

P28474

RefSeq (mRNA)

NM_000671

NM_001288578
NM_007410

RefSeq (protein)

NP_000662

NP_001275507
NP_031436

Location (UCSC) Chr 4: 99.07 – 99.09 Mb Chr 3: 138.15 – 138.16 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Alcohol dehydrogenase class-3 is an enzyme that in humans is encoded by the ADH5 gene. [5] [6] [7]

This gene encodes glutathione-dependent formaldehyde dehydrogenase or the class III alcohol dehydrogenase chi subunit, which is a member of the alcohol dehydrogenase family. Members of this family metabolize a wide variety of substrates, including ethanol, retinol, other aliphatic alcohols, hydroxysteroids, and lipid peroxidation products. Class III alcohol dehydrogenase is a homodimer composed of 2 chi subunits. It has virtually no activity for ethanol oxidation, but exhibits high activity for oxidation of long-chain primary alcohols and for oxidation of S-hydroxymethyl-glutathione, a spontaneous adduct between formaldehyde and glutathione.

This enzyme is an important component of cellular metabolism for the elimination of formaldehyde, a potent irritant and sensitizing agent that causes lacrymation, rhinitis, pharyngitis, and contact dermatitis. [7]

Clinical significance

Mutations of the ADH5 gene and ALDH2 gene cause AMED syndrome, an autosomal recessive digenic multisystem disorder characterized by global developmental delay with impaired intellectual development, short stature, growth impairment and early development of myelodysplastic syndrome and bone marrow failure. The syndrome was first described in 2020. [8]

Related Research Articles

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References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000197894 – Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000028138 – 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. ↑ Hur MW, Edenberg HJ (Dec 1992). "Cloning and characterization of the ADH5 gene encoding human alcohol dehydrogenase 5, formaldehyde dehydrogenase". Gene. 121 (2): 305–11. doi:10.1016/0378-1119(92)90135-C. PMID   1446828.
  6. ↑ Adinolfi A, Adinolfi M, Hopkinson DA (May 1984). "Immunological and biochemical characterization of the human alcohol dehydrogenase chi-ADH isozyme". Ann Hum Genet. 48 (Pt 1): 1–10. doi:10.1111/j.1469-1809.1984.tb00828.x. PMID   6424546. S2CID   85113864.
  7. 1 2 "Entrez Gene: ADH5 alcohol dehydrogenase 5 (class III), chi polypeptide".
  8. ↑ Kniffin CL (27 November 2023) [Originally published on 13 January 2021]. "AMED SYNDROME, DIGENIC; AMEDS". Online Mendelian Inheritance in Man. Johns Hopkins University. #619151. Retrieved 1 May 2024.

Further reading


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