SDHD wt Allele

Preferred Label : SDHD wt Allele;

NCIt synonyms : PGL; PGL1; CWS3; CBT1; SDH4; CII-4; Succinate Dehydrogenase Complex, Subunit D, Integral Membrane Protein Gene; QPs3; cybS; Succinate Dehydrogenase Complex Subunit D wt Allele; Succinate Dehydrogenase 4, Integral Membrane Protein Gene;

NCIt definition : Human SDHD wild-type allele is located in the vicinity of 11q23 and is approximately 33 kb in length. This allele, which encodes succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial protein, is involved in the localization of enzyme activity of the electron transport chain. Mutation of the gene is associated with hereditary paraganglioma type 1, pheochromocytoma, Carney-Stratakis syndrome and Cowden-like syndrome. Mutations also may be associated with intestinal carcinoid tumor.;

GenBank Accession Number : AB006202;

Details

Origin ID

C97780;

UMLS CUI

C3273622;

Automatic exact mappings (from CISMeF team)
- CBT-1 (plant alkaloid) [MeSH Supplementary Concept]
- Cowden syndrome 3 [OMIM Phenotype]
- PGL(a) [MeSH concept]
- Paragangliomas 1 [OMIM Phenotype]
- Picogram/liter (qualifier value) [SNOMED CT concept]
- Protein glycosylation [OMIConto index]
- Protein glycosylation [OMIConto structure]
- Succinate dehydrogenase complex, subunit D, integral membrane protein [OMIM gene]
- paraganglioma [MeSH Descriptor]
- peptide-Gly-Leu-amide [MeSH Supplementary Concept]
- peptidylamidoglycolate lyase activity [GO term]
- persistent generalized lymphadenopathy [DO Concept]
- succinate dehydrogenase complex subunit D [ORDO Gene]
OMIM relation
- Succinate dehydrogenase complex, subunit D, integral membrane protein [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 11q23 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Hereditary Paraganglioma [NCIt concept]
- Hereditary Paraganglioma-Pheochromocytoma Syndrome [NCIt concept]
- Succinate Dehydrogenase-Deficient Renal Cell Carcinoma [NCIt concept]
- Succinate Dehydrogenase-Deficient Tumor Syndrome [NCIt concept]
gene_is_element_in_pathway
- Alzheimer's Disease Pathway KEGG [NCIt concept]
- Citrate Cycle (TCA Cycle) Pathway [NCIt concept]
- Electron Transport Pathway [NCIt concept]
- Huntington's Disease Pathway [NCIt concept]
- Oxidative Phosphorylation Pathway [NCIt concept]
- Parkinson's Disease Pathway KEGG [NCIt concept]
gene_plays_role_in_process
- Cell Respiration [NCIt concept]
- Protein-Protein Interaction [NCIt concept]

Keyword's position in hierarchy(ies) :

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