CIT wt Allele - CISMeF

Preferred Label : CIT wt Allele;

NCIt synonyms : KIAA0949; CRIK; Citron Rho-Interacting Serine/Threonine Kinase wt Allele; Citron (Rho-Interacting, Serine/Threonine Kinase 21) Gene; MCPH17; CITK; STK21;

NCIt definition : Human CIT wild-type allele is located in the vicinity of 12q24.23 and is approximately 192 kb in length. This allele, which encodes citron Rho-interacting kinase protein, is involved in the regulation of Rho family of GTPase activity, cytokinesis and serine/threonine kinase activity. Mutation of the gene is associated with primary, autosomal recessive microcephaly 17.;

NCI Metathesaurus CUI : CL1773825;

GenBank Accession Number : AB023166;

Details

Origin ID

C185411;

UMLS CUI

C5575527;

Automatic exact mappings (from CISMeF team)
- Citron rho-interacting serine/threonine kinase [OMIM gene]
- Microcephaly 17, primary, autosomal recessive [OMIM Phenotype]
- citron rho-interacting serine/threonine kinase [ORDO Gene]
- primary autosomal recessive microcephaly 17 [DO Concept]
OMIM relation
- Citron rho-interacting serine/threonine kinase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Cytokinesis [NCIt concept]
- Mitosis [NCIt concept]
- Phosphorylation Process [NCIt concept]
- Serine/Threonine Phosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients