Application | Comment | Organism |
---|---|---|
diagnostics | succinate dehydrogenase subunits may be candidate susceptibility genes for some phosphatase and tensin homolog (PTEN, tumor suppressor) mutation-negative individuals with Cowden syndrome-like cancers. To address this hypothesis, germline succinate dehydrogenase subunits SDHB-D mutation analysis in 375 PTEN mutation-negative Cowden syndrome /Cowden syndrome -like individuals is performed, followed by functional analysis of identified SDH mutations/variants. Germline SDH mutations/variants occur in a subset of PTEN mutation-negative Cowden syndrome /Cowden syndrome -like individuals and are associated with increased frequencies of breast, thyroid, and renal cancers beyond those conferred by germline PTEN mutations. SDH testing should be considered for germline PTEN mutation-negative Cowden syndrome /Cowden syndrome -like -like individuals, especially in the setting of breast, thyroid, and/or renal cancers | Homo sapiens |
Cloned (Comment) | Organism |
---|---|
genes SDHC, SDHD, and SDHB, DNA and amino acid sequence determination and analysis, expression analysis in healthy individuals and in patients with Cowden and Cowden-like syndromes, the latter show PTEN mutations, overview | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
A3G | naturally occurring germline mutation of gene SDHB, phenotype, overview | Homo sapiens |
G12S | naturally occurring germline mutation of gene SDHD, phenotype, overview | Homo sapiens |
H145N | naturally occurring germline mutation of gene SDHD, phenotype, overview | Homo sapiens |
H50R | naturally occurring germline mutation of gene SDHD, phenotype, overview | Homo sapiens |
additional information | germline mutations and variants in the succinate dehydrogenase gene SDHD, encoding the subunit D, in Cowden and Cowden-like syndromes, overview, mutations of the SDH genes can cause diverse pathologies, overview | Homo sapiens |
S163P | naturally occurring germline mutation of gene SDHB, phenotype, overview | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | Homo sapiens | the Cowden or Cowden-like syndromes are caused by PTEN mutations of the SDH-D gene, encoding the subunit D, the syndromes are associated with breast, thyroid and endometrial neoplasias, overview | ? | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | - |
- |
- |
Homo sapiens | - |
genes SDHC, SDHD, and SDHB | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
additional information | the Cowden or Cowden-like syndromes are caused by PTEN mutations of the SDH-D gene, encoding the subunit D, the syndromes are associated with breast, thyroid and endometrial neoplasias, overview | Homo sapiens | ? | - |
? |
Synonyms | Comment | Organism |
---|---|---|
SDH | - |
Homo sapiens |
succinate dehydrogenase | - |
Homo sapiens |