SDHB wt Allele

Preferred Label : SDHB wt Allele;

NCIt synonyms : IP; Succinate Dehydrogenase 2, S. cerevisiae, Homolog of Gene; PGL4; SDH2; SDH1; SDH; SDHIP; FLJ92337; Succinate Dehydrogenase Complex, Subunit B, Iron Sulfur (Ip) Gene; Succinate Dehydrogenase Complex, Subunit B, Iron Sulfur Protein Gene; Succinate Dehydrogenase Complex Iron Sulfur Subunit B wt Allele; SDH2, Homolog of Gene;

NCIt definition : Human SDHB wild-type allele is located within 1p36.1-p35 and is approximately 35 kb in length. This allele, which encodes succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial protein, is involved in the electron transport chain. Mutation of the gene is associated with pheochromocytoma, hereditary paraganglioma type 4, Carney-Stratakis syndrome and Cowden-like syndrome.;

GenBank Accession Number : U17248;

Details

Origin ID

C97774;

UMLS CUI

C3273618;

Automatic exact mappings (from CISMeF team)
- Hip [LOINC System]
- Hip [LOINC System]
- Incontinentia pigmenti [OMIM Phenotype]
- L-Iditol 2-Dehydrogenase [MeSH Descriptor]
- L-iditol dehydrogenase [LOINC component]
- Nontraumatic subdural haemorrhage [ICD-11 Category]
- Paragangliomas 4 [OMIM Phenotype]
- Perfusion Index [MeSH Descriptor]
- Sarcosine dehydrogenase [OMIM gene]
- Serine dehydratase [OMIM gene]
- Ulcerative proctitis [ICD-11 Subcategory]
- hip [MeSH Descriptor]
- interpeduncular nucleus [UBERON concept]
- protease inhibitors [MeSH Descriptor]
- sarcosine dehydrogenase [ORDO Gene]
- subdural hematoma [Radlex concept]
- succinate dehydrogenase complex flavoprotein subunit A [ORDO Gene]
- succinate dehydrogenase complex iron sulfur subunit B [ORDO Gene]
OMIM relation
- Succinate dehydrogenase complex, subunit b, iron sulfur 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
- 1p36.1-p35 [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]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]

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