CDK6 Chromosome 7

Cyclin dependent kinase 6
4 variants 4 Health Risk

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What This Gene Does
The protein encoded by this gene is a member of the CMGC family of serine/threonine protein kinases. This kinase is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression and G1/S transition. The activity of this kinase first appears in mid-G1 phase, which is controlled by the regulatory subunits including D-type cyclins and members of INK4 family of CDK inhibitors. This kinase, as well as CDK4, has been shown to phosphorylate, and thus regulate the activity of, tumor suppressor protein Rb. Altered expression of this gene has been observed in multiple human cancers. A mutation in this gene resulting in reduced cell proliferation, and impaired cell motility and polarity, and has been identified in patients with primary microcephaly. [provided by RefSeq, Aug 2017]
Gene Info
Gene Group
Cyclin dependent kinases
Locus Type
gene with protein product
Location
7q21.2
Ensembl
ENSG00000105810
Associated Conditions (5)
Behcet disease
CDK6-related disorder
Microcephaly 12
primary
autosomal recessive
Key Variants
All Variants (4)
RSID Category Clinical Significance Conditions
RS2282983 Health Risk association Behcet disease, Behcet disease
RS42034 Health Risk association Behcet disease, Behcet disease
RS35654944 Health Risk Conflicting classifications of pathogenicity CDK6-related disorder, CDK6-related disorder
RS606231255 Health Risk Pathogenic Microcephaly 12, primary, autosomal recessive
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