MVK wt Allele - CISMeF

Preferred Label : MVK wt Allele;

NCIt synonyms : LRBP; Mevalonate Kinase wt Allele; Mevalonate Kinase (Mevalonic Aciduria) Gene; MK; LH Receptor mRNA-Binding Protein Gene; POROK3; Mevalonic Aciduria Gene; MVLK;

NCIt definition : Human MVK wild-type allele is located in the vicinity of 12q24.11 and is approximately 25 kb in length. This allele, which encodes mevalonate kinase protein, plays a role in cholesterol synthesis. Mutation of the gene is associated with hyperimmunoglobulin D syndrome, mevalonic aciduria and porokeratosis 3.;

NCI Metathesaurus CUI : CL1642515;

GenBank Accession Number : M88468;

Details

Origin ID

C176452;

UMLS CUI

C5444591;

Automatic exact mappings (from CISMeF team)
- Menkes disease [ORDO Disease]
- Menkes disease [OMIM Phenotype]
- Mevalonic aciduria [ORDO Disease]
- Midkine [OMIM gene]
- Porokeratosis 3, multiple types [OMIM Phenotype]
- mevalonate kinase [ORDO Gene]
- mevalonate kinase deficiency [MeSH Descriptor]
- physical therapists [MeSH Descriptor]
OMIM relation
- Mevalonate kinase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 12q24.11 [NCIt concept]
gene_is_element_in_pathway
- Peroxisome Biogenesis Pathway [NCIt concept]
- Terpenoid Biosynthesis Pathway [NCIt concept]
gene_plays_role_in_process
- Biosynthetic Process [NCIt concept]
- Cholesterol Homeostasis [NCIt concept]
- Phosphorylation Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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