CDKL5 wt Allele

Preferred Label : CDKL5 wt Allele;

NCIt synonyms : ISSX; Cyclin-Dependent Kinase-Like 5 wt Allele; STK9;

NCIt definition : Human CDKL5 wild-type allele is located in the vicinity of Xp22 and is approximately 228 kb in length. This allele, which encodes cyclin-dependent kinase-like 5 protein, is involved in the mediation of protein phosphorylation. Translocations and mutations involving the gene are associated with X-linked infantile spasm syndrome 2. Rett syndrome also is associated with defects in the gene.;

NCIt note : Translocations, t(X;7)(p22.3;p15) or t(X;6)(p22.3;q14) disrupt the sequence of the CDKL5 gene and are associated with X-linked infantile spasm syndrome 2. (OMIM);

GenBank Accession Number : Y15057;

Details

Origin ID

C75305;

UMLS CUI

C2698719;

OMIM relation
- Cyclin-dependent kinase-like 5 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- Xp22 [NCIt concept]
gene_plays_role_in_process
- Phosphorylation Process [NCIt concept]
- Serine/Threonine Phosphorylation [NCIt concept]
- Signal Transduction [NCIt concept]

Keyword's position in hierarchy(ies) :

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