CDKL4
Description
The CDKL4 (cyclin dependent kinase like 4) is a protein-coding gene located on chromosome 2.
CDKL4 is a gene that encodes a protein kinase involved in brain development. Mutations in CDKL4 are associated with CDKL4 syndrome, a severe neurodevelopmental disorder characterized by intellectual disability, epilepsy, and other developmental delays.
CDKL4 (Cyclin-Dependent Kinase-Like 4) is a serine/threonine kinase that plays a crucial role in brain development. Its primary function is to regulate the phosphorylation of target proteins, which are involved in various cellular processes, including cell cycle progression, neuronal differentiation, and synaptic plasticity. Mutations in the CDKL4 gene can lead to a severe neurodevelopmental disorder called CDKL4 syndrome, characterized by intellectual disability, epilepsy, and other developmental delays. Research indicates that CDKL4 contributes to the proper formation and function of neuronal networks, and its dysregulation can significantly impact brain development and cognitive function.
CDKL4 is also known as -.
Associated Diseases
- early-onset non-syndromic cataract
- hereditary hyperferritinemia with congenital cataracts
- isolated ectopia lentis
- cataract
- cataract 13 with adult I phenotype
- cataract 38
- isolated asymptomatic elevation of creatine phosphokinase
- granular corneal dystrophy type I
- cataract 12 multiple types
- cataract 5 multiple types
- congenital cataract-ichthyosis syndrome
- cataract 8 multiple types
