CKB wt Allele - CISMeF

Preferred Label : CKB wt Allele;

NCIt synonyms : Creatine Kinase, Brain wt Allele; CKBB; Creatine Kinase Gene; HEL-S-29; HEL-211; Creatine Kinase, Brain Type Gene; CK-BB; B-CK; BCK;

NCIt definition : Human CKB wild-type allele is located within 14q32 and is approximately 3 kb in length. This allele, which encodes creatine kinase B-type protein, is involved in the reversible transfer of phosphate between ATP and phoshphogens wherein creatine phosphate is the primary substrate.;

GenBank Accession Number : NM_001823;

Details

Origin ID

C51052;

UMLS CUI

C1707134;

Automatic exact mappings (from CISMeF team)
- creatine kinase activity [GO term]
- creatine kinase, BB form [MeSH Descriptor]
OMIM relation
- Creatine kinase, brain type [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_has_physical_location
- 14: 103058923-103055749 [NCIt concept]
gene_in_chromosomal_location
- 14q32 [NCIt concept]
gene_is_element_in_pathway
- Arginine and Proline Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Energy Metabolism Process [NCIt concept]
- Homeostatic Process [NCIt concept]
- Phosphorylation Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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