RGD Reference Report - D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency: a newly identified peroxisomal disorder. - Rat Genome Database

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D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxyacyl-CoA dehydrogenase bifunctional protein deficiency: a newly identified peroxisomal disorder.

Authors: Suzuki, Y  Jiang, LL  Souri, M  Miyazawa, S  Fukuda, S  Zhang, Z  Une, M  Shimozawa, N  Kondo, N  Orii, T  Hashimoto, T 
Citation: Suzuki Y, etal., Am J Hum Genet. 1997 Nov;61(5):1153-62.
RGD ID: 1599968
Pubmed: PMID:9345094   (View Abstract at PubMed)
PMCID: PMC1716023   (View Article at PubMed Central)
DOI: DOI:10.1086/301599   (Journal Full-text)

Peroxisomal beta-oxidation proceeds from enoyl-CoA through D-3-hydroxyacyl-CoA to 3-ketoacyl-CoA by the D-3-hydroxyacyl-CoA dehydratase/D-3-hydroxy-acyl-CoA dehydrogenase bifunctional protein (d-bifunctional protein), and the oxidation of bile-acid precursors also has been suggested as being catalyzed by the d-bifunctional protein. Because of the important roles of this protein, we reinvestigated two Japanese patients previously diagnosed as having enoyl-CoA hydratase/L-3-hydroxyacyl-CoA dehydrogenase bifunctional protein (L-bifunctional protein) deficiency, in complementation studies. We found that both the protein and the enzyme activity of the d-bifunctional protein were hardly detectable in these patients but that the active L-bifunctional protein was present. The mRNA level in patient 1 was very low, and, for patient 2, mRNA was of a smaller size. Sequencing analysis of the cDNA revealed a 52-bp deletion in patient 1 and a 237-bp deletion in patient 2. This seems to be the first report of D-bifunctional protein deficiency. Patients previously diagnosed as cases of L-bifunctional protein deficiency probably should be reexamined for a possible d-bifunctional protein deficiency.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
HSD17B4HumanD-bifunctional protein deficiency  IAGP  RGD 
Hsd17b4RatD-bifunctional protein deficiency  ISOHSD17B4 (Homo sapiens) RGD 
Hsd17b4MouseD-bifunctional protein deficiency  ISOHSD17B4 (Homo sapiens) RGD 

Objects Annotated

Genes (Rattus norvegicus)
Hsd17b4  (hydroxysteroid (17-beta) dehydrogenase 4)

Genes (Mus musculus)
Hsd17b4  (hydroxysteroid (17-beta) dehydrogenase 4)

Genes (Homo sapiens)
HSD17B4  (hydroxysteroid 17-beta dehydrogenase 4)


Additional Information