CDKN2C Chromosome 1

Cyclin dependent kinase inhibitor 2C
1 variant 1 Health Risk

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What This Gene Does
The protein encoded by this gene is a member of the INK4 family of cyclin-dependent kinase inhibitors. This protein has been shown to interact with CDK4 or CDK6, and prevent the activation of the CDK kinases, thus function as a cell growth regulator that controls cell cycle G1 progression. Ectopic expression of this gene was shown to suppress the growth of human cells in a manner that appears to correlate with the presence of a wild-type RB1 function. Studies in the knockout mice suggested the roles of this gene in regulating spermatogenesis, as well as in suppressing tumorigenesis. Two alternatively spliced transcript variants of this gene, which encode an identical protein, have been reported. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Ankyrin repeat domain containing
Locus Type
gene with protein product
Location
1p32.3
Ensembl
ENSG00000123080
Associated Conditions (1)
Multiple myeloma
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS746646631 Health Risk Likely pathogenic Multiple myeloma, Multiple myeloma
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