Enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase
The EHHADH gene encodes an enzyme involved in peroxisomal beta-oxidation pathway. It is expressed in the proximal tubule. A missense mutation is described to cause autosomal dominant Fanconi syndrome type 3.
Genetests:
Related Diseases:
References:
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Tolaymat A et al. (1992) Idiopathic Fanconi syndrome in a family. Part I. Clinical aspects.
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Klootwijk ED et al. (2014) Mistargeting of peroxisomal EHHADH and inherited renal Fanconi's syndrome.
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3. |
Qi C et al. (1999) Absence of spontaneous peroxisome proliferation in enoyl-CoA Hydratase/L-3-hydroxyacyl-CoA dehydrogenase-deficient mouse liver. Further support for the role of fatty acyl CoA oxidase in PPARalpha ligand metabolism.
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Zhao S et al. (2010) Regulation of cellular metabolism by protein lysine acetylation.
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Hoefler G et al. (1994) cDNA cloning of the human peroxisomal enoyl-CoA hydratase: 3-hydroxyacyl-CoA dehydrogenase bifunctional enzyme and localization to chromosome 3q26.3-3q28: a free left Alu Arm is inserted in the 3' noncoding region.
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6. |
NCBI article
NCBI 1962
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OMIM.ORG article
Omim 607037
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8. |
Orphanet article
Orphanet ID 159556
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9. |
Wikipedia article
Wikipedia EN (EHHADH)
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Update: Aug. 14, 2020