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MPPH3

Chr 12AD

cyclin D2

Also known as: KIAK0002, MPPH3

NCBI Gene: 894 OMIM: 615938

The encoded cyclin protein regulates CDK4 and CDK6 kinases to control cell cycle G1/S transition and is involved in phosphorylation of the tumor suppressor protein Rb. Mutations cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, a multisystem disorder affecting brain development, limb formation, and cerebrospinal fluid dynamics. This follows autosomal dominant inheritance.

OMIM ResearchSummary from RefSeq, OMIM

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 regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with CDK4 or CDK6 and functions as a regulatory subunit of the complex, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with and be involved in the phosphorylation of tumor suppressor protein Rb. Knockout studies of the homologous gene in mouse suggest the essential roles of this gene in ovarian granulosa and germ cell proliferation. High level expression of this gene was observed in ovarian and testicular tumors. Mutations in this gene are associated with megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 (MPPH3). [provided by RefSeq, Sep 2014]

OMIM ResearchGenerating clinical summary…