CDKL5 wt Allele

**Semantic type:** Gene or Genome

**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.

**Synonyms:** - Cyclin-Dependent Kinase-Like 5 wt Allele - ISSX - STK9