EHHADH-Gen
Das EHHADH-Gen kodiert ein Enzym des peroxisomalen Stoffwechsels der Beta-Oxidation. Es findet sich im proximalen Tubulus der Niere. Eine Mutation wurde gefunden, welche das autosomal dominante Fanconi-Syndrom Typ 3 hervorruft.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Tolaymat A et al. (1992) Idiopathic Fanconi syndrome in a family. Part I. Clinical aspects.
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2. |
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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4. |
Zhao S et al. (2010) Regulation of cellular metabolism by protein lysine acetylation.
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5. |
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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7. |
OMIM.ORG article
Omim 607037
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8. |
Orphanet article
Orphanet ID 159556
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Update: 14. August 2020