CYP7B1 wt Allele

Preferred Label : CYP7B1 wt Allele;

NCIt synonyms : Cytochrome P450, Family 7, Subfamily B, Polypeptide 1 wt Allele; SPG5A; CP7B; Cytochrome P450, Subfamily VIIB (Oxysterol 7 Alpha-Hydroxylase), Polypeptide 1 Gene; Spastic Paraplegia 5A (Autosomal Recessive) Gene; CBAS3;

NCIt definition : Human CYP7B1 wild-type allele is located in the vicinity of 8q21.3 and is approximately 211 kb in length. This allele, which encodes 25-hydroxycholesterol 7-alpha-hydroxylase enzyme, is involved in cholesterol catabolism. Mutation of the gene is associated with autosomal recessive spastic paraplegia 5A and congenital bile acid synthesis defect 3.;

GenBank Accession Number : AF029403;

Details

Origin ID

C114942;

UMLS CUI

C3890747;

Automatic exact mappings (from CISMeF team)
- congenital bile acid synthesis defect 3 [DO Concept]
- cytochrome P450 family 7 subfamily B member 1 [ORDO Gene]
- hereditary spastic paraplegia 5A [DO Concept]
OMIM relation
- Cytochrome p450, family 7, subfamily b, polypeptide 1 [OMIM gene]
See also inter- (CISMeF)
- Autosomal recessive spastic paraplegia type 5A [ORDO Disease]
- Spastic paraplegia 5a, autosomal recessive [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Bile Acid Biosynthesis Pathway [NCIt concept]
- Steroid Hormone Biosynthesis Pathway [NCIt concept]
gene_plays_role_in_process
- Detoxification [NCIt concept]
- Intermediary Metabolic Process [NCIt concept]
- Iron Chelation [NCIt concept]
- Lipid Metabolic Process [NCIt concept]
- Oxidation [NCIt concept]
- Oxidation/Reduction [NCIt concept]
- Steroid Metabolic Process [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients