CDK5 Chromosome 7
Cyclin dependent kinase 5
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What This Gene Does
This gene encodes a proline-directed serine/threonine kinase that is a member of the cyclin-dependent kinase family of proteins. Unlike other members of the family, the protein encoded by this gene does not directly control cell cycle regulation. Instead the protein, which is predominantly expressed at high levels in mammalian postmitotic central nervous system neurons, functions in diverse processes such as synaptic plasticity and neuronal migration through phosphorylation of proteins required for cytoskeletal organization, endocytosis and exocytosis, and apoptosis. In humans, an allelic variant of the gene that results in undetectable levels of the protein has been associated with lethal autosomal recessive lissencephaly-7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]
Gene Info
Gene Group
Cyclin dependent kinases
Locus Type
gene with protein product
Location
7q36.1
Ensembl
ENSG00000164885
Associated Conditions (2)
Lissencephaly 7 with cerebellar hypoplasia
Colon adenocarcinoma
Key Variants
RS76486938
Conflicting classifications of pathogenicity
Health Risk
RS2486426172
Likely pathogenic
Lissencephaly 7 with cerebellar hypoplasia, Colon adenocarcinoma, Lissencephaly 7 with cerebellar hypoplasia
Health Risk
RS786205164
Pathogenic
Lissencephaly 7 with cerebellar hypoplasia, Lissencephaly 7 with cerebellar hypoplasia
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS76486938 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2486426172 | Health Risk | Likely pathogenic | Lissencephaly 7 with cerebellar hypoplasia, Colon adenocarcinoma, Lissencephaly 7 with cerebellar hypoplasia |
| RS786205164 | Health Risk | Pathogenic | Lissencephaly 7 with cerebellar hypoplasia, Lissencephaly 7 with cerebellar hypoplasia |