CCNK Chromosome 14

Cyclin K

1 variant 1 Health Risk

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What This Gene Does

The protein encoded by this gene is a member of the transcription cyclin family. These cyclins may regulate transcription through their association with and activation of cyclin-dependent kinases (CDK) that phosphorylate the C-terminal domain (CTD) of the large subunit of RNA polymerase II. This gene product may play a dual role in regulating CDK and RNA polymerase II activities. [provided by RefSeq, Jul 2008]

Gene Info

Gene Group

"Cyclins|P-TEFb complex subunits"

Locus Type

gene with protein product

Location

14q32.2

Ensembl

ENSG00000090061

Associated Conditions (1)

Intellectual developmental disorder with hypertelorism and distinctive facies

Key Variants

RS1566748800

Pathogenic

Intellectual developmental disorder with hypertelorism and distinctive facies, Intellectual developmental disorder with hypertelorism and distinctive facies

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS1566748800	Health Risk	Pathogenic	Intellectual developmental disorder with hypertelorism and distinctive facies, Intellectual developmental disorder with hypertelorism and distinctive facies