Hydroxyacyl-Coenzyme A dehydrogenase

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Hydroxyacyl-CoA dehydrogenase

PDB rendering based on 3had.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
SymbolsHADH; HAD; HADH1; HADHSC; HCDH; HHF4; MSCHAD; SCHAD
External IDsOMIM: 601609 MGI: 96009 HomoloGene: 55888 GeneCards: HADH Gene
EC number1.1.1.35
Orthologs
SpeciesHumanMouse
Entrez303315107
EnsemblENSG00000138796ENSMUSG00000027984
UniProtQ16836Q61425
RefSeq (mRNA)NM_001184705NM_008212
RefSeq (protein)NP_001171634NP_032238
Location (UCSC)Chr 4:
108.91 – 108.96 Mb		Chr 3:
131.23 – 131.27 Mb
PubMed search
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Hydroxyacyl-Coenzyme A dehydrogenase also known as HADH is an enzyme which in humans is encoded by the HADH gene.[1][2]

Function

This gene is a member of the 3-hydroxyacyl-CoA dehydrogenase gene family. The encoded protein functions in the mitochondrial matrix to catalyze the oxidation of straight-chain 3-hydroxyacyl-CoAs as part of the beta-oxidation pathway. Its enzymatic activity is highest with medium-chain-length fatty acids.[3]

Clinical significance

Mutations in this gene cause one form of familial hyperinsulinemic hypoglycemia.[4] A deficiency is associated with 3-hydroxyacyl-coenzyme A dehydrogenase deficiency.

See also

References

  1. ↑ Craig I, Tolley E, Bobrow M (1976). "A preliminary analysis of the segregation of human hydroxyacyl coenzyme A dehydrogenase in human-mouse somatic cell hybrids". Cytogenet. Cell Genet. 16 (1–5): 114–7. doi:10.1159/000130568. PMID 975867. 
  2. ↑ Yang SY, He XY, Schulz H (October 2005). "3-Hydroxyacyl-CoA dehydrogenase and short chain 3-hydroxyacyl-CoA dehydrogenase in human health and disease". FEBS J. 272 (19): 4874–83. doi:10.1111/j.1742-4658.2005.04911.x. PMID 16176262. 
  3. ↑ "Entrez Gene: HADH". 
  4. ↑ Molven A, Matre GE, Duran M, Wanders RJ, Rishaug U, Njølstad PR, Jellum E, Søvik O (January 2004). "Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation". Diabetes 53 (1): 221–7. doi:10.2337/diabetes.53.1.221. PMID 14693719. 

External links


This article incorporates text from the United States National Library of Medicine, which is in the public domain.

Oxidoreductases: alcohol oxidoreductases (EC 1.1)
1.1.1: NAD/NADP acceptor
1.1.2: cytochrome acceptor
1.1.3: oxygen acceptor
1.1.4: disulfide as acceptor
1.1.5: quinone/similar acceptor
1.1.99: other acceptors
  • B
  • enzm
  • 1.1
    • 2
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    • 15-18
  • 2.1
    • 2
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    • 7
      • 2.7.10
      • 11-12
    • 8
  • 3.1
      • 3.1.3.48
    • 2
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      • 3.4.21
      • 22
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    • 5
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  • 4.1
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  • 5.1
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    • 99
  • 6.1-3
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Synthesis
Malonyl-CoA synthesis
Fatty acid desaturases
Triacyl glycerol
Degradation
Acyl transport
General
Unsaturated
Odd chain
Other

M: MET

mt, k, c/g/r/p/y/i, f/h/s/l/o/e, a/u, n, m

k, cgrp/y/i, f/h/s/l/o/e, au, n, m, epon

m (A16/C10), i (k, c/g/r/p/y/i, f/h/s/o/e, a/u, n, m)

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