CDK2AP2
Description
The CDK2AP2 (cyclin dependent kinase 2 associated protein 2) is a protein-coding gene located on chromosome 11.
CDK2AP2 is a component of the histone deacetylase NuRD complex, which plays a role in chromatin remodeling. It inhibits cell cycle progression from G1 to S phase by suppressing CDK2 expression and activation. CDK2AP2 also contributes to the regulation of embryonic stem cell self-renewal and survival during their terminal differentiation. It has been implicated in microtubule organization during metaphase II of oocyte development.
CDK2AP2 is also known as DOC-1R, DOC1R, p14.
Associated Diseases
- hemoglobin D disease
- schizophrenia 15
- Phelan-McDermid syndrome
- dominant beta-thalassemia
- hemolytic anemia due to glutathione reductase deficiency
- hemoglobin E disease
- Potocki-Lupski syndrome
- delta-beta-thalassemia
- spinocerebellar ataxia, autosomal recessive 24
- hemoglobin C-beta-thalassemia syndrome
- alpha-thalassemia-myelodysplastic syndrome
- granular corneal dystrophy type I
- hydrocephaly-cerebellar agenesis syndrome
- cataract 5 multiple types
- hemoglobin H disease
