RGD Reference Report - Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency. - Rat Genome Database

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Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency.

Authors: Brown, RM  Head, RA  Boubriak, II  Leonard, JV  Thomas, NH  Brown, GK 
Citation: Brown RM, etal., Hum Genet. 2004 Jul;115(2):123-7. Epub 2004 May 11.
RGD ID: 1599115
Pubmed: PMID:15138885   (View Abstract at PubMed)
DOI: DOI:10.1007/s00439-004-1124-8   (Journal Full-text)

We describe two unrelated patients with pyruvate dehydrogenase (PDH) deficiency attributable to mutations in the gene encoding the E1beta subunit of the complex. This is a previously unrecognised form of PDH deficiency, which most commonly results from mutations in the X-linked gene for the E1alpha subunit. Both patients had reduced immunoreactive E1beta protein and both had missense mutations in the E1beta gene. Activity of the PDH complex was restored in cultured fibroblasts from both patients by transfection and expression of the normal E1beta coding sequence.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
PDHBHumanpyruvate decarboxylase deficiency  IAGP  RGD 
PdhbRatpyruvate decarboxylase deficiency  ISOPDHB (Homo sapiens) RGD 
PdhbMousepyruvate decarboxylase deficiency  ISOPDHB (Homo sapiens) RGD 

Objects Annotated

Genes (Rattus norvegicus)
Pdhb  (pyruvate dehydrogenase E1 subunit beta)

Genes (Mus musculus)
Pdhb  (pyruvate dehydrogenase (lipoamide) beta)

Genes (Homo sapiens)
PDHB  (pyruvate dehydrogenase E1 subunit beta)


Additional Information