CCNB3 Chromosome X

Cyclin B3
4 variants 4 Health Risk

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What This Gene Does
The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as positive regulators of cyclin-dependent kinases (CDKs), and thereby play an essential role in the control of the cell cycle. Different cyclins exhibit distinct expression and degradation patterns, which contribute to the temporal coordination of each mitotic event. Studies of similar genes in chicken and drosophila suggest that this cyclin may associate with CDC2 and CDK2 kinases, and may be required for proper spindle reorganization and restoration of the interphase nucleus. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]
Gene Info
Gene Group
Cyclins
Locus Type
gene with protein product
Location
Xp11.22
Ensembl
ENSG00000147082
Associated Conditions (4)
Pregnancy loss
recurrent
susceptibility to
1
Key Variants
All Variants (4)
RSID Category Clinical Significance Conditions
RS138975401 Health Risk Conflicting classifications of pathogenicity
RS781804199 Health Risk Conflicting classifications of pathogenicity
RS781908510 Health Risk Conflicting classifications of pathogenicity
RS1602253764 Health Risk Pathogenic Pregnancy loss, recurrent, susceptibility to
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