HSD11B1 wt Allele

Preferred Label : HSD11B1 wt Allele;

NCIt synonyms : HDL; 11-DH; Short Chain Dehydrogenase/Reductase Family 26C, Member 1 Gene; CORTRD2; HSD11L; SDR26C1; HSD11; Hydroxysteroid (11-Beta) Dehydrogenase 1 wt Allele; 11-beta-HSD1; HSD11B;

NCIt definition : Human HSD11B1 wild-type allele is located within 1q32-q41 and is approximately 49 kb in length. This allele, which encodes 11-beta-hydroxysteroid dehydrogenase 1 protein, plays a role in the metabolism of cortisol. Mutation of the gene is associated with cortisone reductase deficiency.;

GenBank Accession Number : BC012593;

Details

Origin ID

C113166;

UMLS CUI

C3715113;

Automatic exact mappings (from CISMeF team)
- 11-beta-hydroxysteroid dehydrogenase type 1 [MeSH Descriptor]
- 11-beta-hydroxysteroid dehydrogenase, type I [OMIM gene]
- Cortisone reductase deficiency 2 [OMIM Phenotype]
- HDL [MedDRA LLT]
- High density lipoprotein [FMA entity]
- High density lipoprotein (substance) [SNOMED CT concept]
- Lipoprotein.alpha [LOINC component]
- cortisone reductase deficiency 2 [DO Concept]
- hydroxysteroid 11-beta dehydrogenase 1 [ORDO Gene]
- lipoproteins, hdl [MeSH Descriptor]
OMIM relation
- 11-beta-hydroxysteroid dehydrogenase, type I [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1q32-q41 [NCIt concept]
gene_is_element_in_pathway
- Metabolic Syndrome Pathway [NCIt concept]
- Metabolism of Xenobiotics by Cytochrome P450 Pathway [NCIt concept]
- Steroid Hormone Biosynthesis Pathway [NCIt concept]
gene_plays_role_in_process
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]
- Steroid Metabolic Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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