EBP wt Allele - CISMeF

Preferred Label : EBP wt Allele;

NCIt synonyms : MEND; Emopamil-Binding Protein (Sterol Isomerase) Gene; Chondrodysplasia Punctata-2, X-Linked Dominant (Happle Syndrome) Gene; CPXD; Emopamil Binding Protein (Sterol Isomerase) Gene; EBP Cholestenol Delta-Isomerase wt Allele; CHO2; CDPX2; CPX;

NCIt definition : Human EBP wild-type allele is located in the vicinity of Xp11.23 and is approximately 7 kb in length. This allele, which encodes 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase protein, plays a role in the metabolism of cholestenol. Mutation of the gene is associated with X-linked dominant chondrodysplasia punctata 2 (also known as Conradi-Hunermann syndrome or Happle syndrome) and male EBP disorder with neurological defects (MEND) syndrome.;

NCI Metathesaurus CUI : CL1792259;

GenBank Accession Number : Z37986;

Details

Origin ID

C187224;

UMLS CUI

C5702686;

Automatic exact mappings (from CISMeF team)
- 2-succinyl-5-enolpyruvyl-6-hydroxy-3-cyclohexene-1-carboxylic-acid synthase activity [GO term]
- Chondrodysplasia punctata 2, X-linked dominant [OMIM Phenotype]
- Cleft palate with or without ankyloglossia, X-linked [OMIM Phenotype]
- Coproporphyrinogen oxidase [OMIM gene]
- EBP cholestenol delta-isomerase [ORDO Gene]
- MEND [MeSH concept]
- MEND [MeSH Supplementary Concept]
- Mend syndrome [OMIM Phenotype]
- X-linked dominant chondrodysplasia punctata [ORDO Disease]
- coproporphyrinogen oxidase [ORDO Gene]
OMIM relation
- Emopamil-binding 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
- Xp11.23 [NCIt concept]
gene_is_element_in_pathway
- Steroid Hormone Biosynthesis Pathway [NCIt concept]
gene_plays_role_in_process
- Biosynthetic Process [NCIt concept]
- Cholesterol Homeostasis [NCIt concept]
- Steroid Metabolic Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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