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Literature summary extracted from

  • Baysal, B.E.
    A recurrent stop-codon mutation in succinate dehydrogenase subunit B gene in normal peripheral blood and childhood T-cell acute leukemia (2007), PLoS ONE, 2, e436.
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

EC Number Cloned (Comment) Organism
1.3.5.1 gene SDHB, chromoslomal location at 1p36.13, DNA and amino acid sequence determination and analysis of wild-type and mutant enzymes Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
1.3.5.1 additional information determination of distinct heterozygous SDHB missense DNA mutations, the mutational mechanism targeting SDHB is operational in T-cell acute leukemia, overview Homo sapiens
1.3.5.1 R46X naturally ocurring mutations, the recurrent stop-codon mutation in succinate dehydrogenase subunit B gene might play a role in cellular pre-adaptation to hypoxia in normal peripheral blood and childhood T-cell acute leukemia, overview Homo sapiens

Localization

EC Number Localization Comment Organism GeneOntology No. Textmining
1.3.5.1 mitochondrion
-
 Homo sapiens 5739
-

Natural Substrates/ Products (Substrates)

EC Number Natural Substrates Organism Comment (Nat. Sub.) Natural Products Comment (Nat. Pro.) Rev. Reac.
1.3.5.1 additional information Homo sapiens germline mutations in the SDHB, SDHC or SDHD genes cause hereditary paraganglioma tumors which show constitutive activation of homeostatic mechanisms induced by oxygen deprivation/hypoxia, overview ?
-
 ?
1.3.5.1 succinate + ubiquinone Homo sapiens
-
 fumarate + ubiquinol
-
 ?

Organism

EC Number Organism UniProt Comment Textmining
1.3.5.1 Homo sapiens
-
-
-

Source Tissue

EC Number Source Tissue Comment Organism Textmining
1.3.5.1 B-lymphocyte
-
 Homo sapiens
-
1.3.5.1 JURKAT cell
-
 Homo sapiens
-
1.3.5.1 T-cell CD4+ Homo sapiens
-
1.3.5.1 T-lymphocyte
-
 Homo sapiens
-
1.3.5.1 TALL-104 cell
-
 Homo sapiens
-

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
1.3.5.1 additional information germline mutations in the SDHB, SDHC or SDHD genes cause hereditary paraganglioma tumors which show constitutive activation of homeostatic mechanisms induced by oxygen deprivation/hypoxia, overview Homo sapiens ?
-
 ?
1.3.5.1 succinate + ubiquinone
-
 Homo sapiens fumarate + ubiquinol
-
 ?

Cofactor

EC Number Cofactor Comment Organism Structure
1.3.5.1 ubiquinone
-
 Homo sapiens