CYP27A1 wt Allele

Preferred Label : CYP27A1 wt Allele;

NCIt synonyms : CTX; Cytochrome P450, Family 27, Subfamily A, Polypeptide 1 wt Allele; CP27; CYP27;

NCIt definition : Human CYP27A1 wild-type allele is located within 2q35 and is approximately 34 kb in length. This allele, which encodes sterol 26-hydroxylase, mitochondrial protein, plays a role in bile synthesis and cholesterol homeostasis. Mutations in CYP27A1 are associated with cerebrotendinous xanthomatosis.;

GenBank Accession Number : NM_000784;

Details

Origin ID

C104150;

UMLS CUI

C3539598;

Automatic exact mappings (from CISMeF team)
- Cerebrotendinous xanthomatosis [OMIM Phenotype]
- Cerebrotendinous xanthomatosis [ORDO Disease]
- Cerebrotendinous xanthomatosis [ICD-11 More detail]
- Craniofacial development protein 1 [OMIM gene]
- Cyclophosphamide (substance) [SNOMED CT concept]
- Cytochrome p450, subfamily xxviia, polypeptide 1 [OMIM gene]
- cytochrome P450 family 27 subfamily A member 1 [ORDO Gene]
False automatic mappings
- Cyclophosphamide [LOINC component]
- Product containing cyclophosphamide (medicinal product) [SNOMED CT concept]
OMIM relation
- Cytochrome p450, subfamily xxviia, polypeptide 1 [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
- 2q35 [NCIt concept]
gene_plays_role_in_process
- Detoxification [NCIt concept]
- Intermediary Metabolic Process [NCIt concept]
- Iron Chelation [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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