SDHAF2 wt Allele

Preferred Label : SDHAF2 wt Allele;

NCIt synonyms : FLJ20487; Chromosome 11 Open Reading Frame 79 Gene; Paraganglioma Or Familial Glomus Tumors 2 Gene; SDH5; C11orf79; Succinate Dehydrogenase Complex Assembly Factor 2 wt Allele; PGL2;

NCIt definition : Human SDHAF2 wild-type allele is located in the vicinity of 11q12.2 and is approximately 17 kb in length. This allele, which encodes succinate dehydrogenase assembly factor 2, mitochondrial protein, plays a role in the mediation of electron transport. Mutation of the gene is associated with hereditary paraganglioma type 2.;

GenBank Accession Number : AK000494;

Details

Origin ID

C97771;

UMLS CUI

C3273616;

Automatic exact mappings (from CISMeF team)
- Pheochromocytoma/paraganglioma syndrome 2 [OMIM Phenotype]
- Succinate dehydrogenase complex assembly factor 2 [OMIM gene]
- succinate dehydrogenase complex assembly factor 2 [ORDO Gene]
OMIM relation
- Succinate dehydrogenase complex assembly factor 2 [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
- 11q12.2 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Hereditary Paraganglioma-Pheochromocytoma Syndrome [NCIt concept]
- Succinate Dehydrogenase-Deficient Tumor Syndrome [NCIt concept]
gene_plays_role_in_process
- Cell Respiration [NCIt concept]
- Protein-Protein Interaction [NCIt concept]

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