CDKN1C

CDKN1C（cyclin-dependent kinase inhibitor 1C）またはp57KIP2は、ヒトではCDKN1Cインプリンティング遺伝子によってコードされるタンパク質である。 CDKN1C遺伝子はヒトの11番染色体（英語版）（11p15）に位置し、cip/kip遺伝子ファミリーに属する。CDKN1CはいくつかのG1期サイクリン/CDK複合体に強固に結合する阻害因子、そして細胞増殖の負の調節因子である。CDKN1Cの変異は散発性がんやベックウィズ・ヴィーデマン症候群（英語版）への関与が示唆されており、CDKN1Cががん抑制因子であることが示唆される。 CDKN1C遺伝子の変異は細胞周期の制御の喪失をもたらし、無制御な細胞増殖を引き起こす可能性がある。p57KIP2はベックウィズ・ヴィーデマン症候群と関係しており、この疾患は小児期の腫瘍形成リスクの増加によって特徴づけられる。この遺伝子の機能喪失変異はIMAGe症候群（Intrauterine growth restriction, Metaphyseal dysplasia, Adrenal hypoplasia congenita, and Genital anomalies）とも関係していることが示されている。CDKN1C遺伝子は父親由来のアレルがインプリンティング（サイレンシング）されている遺伝子であり、父親由来のDNAのみから構成される全胞状奇胎の細胞ではp57KIP2の発現がみられない。そのため、p57KIP2の免疫組織染色を胞状奇胎の診断に利用することができる。 CDKN1Cは次に挙げる因子と相互作用することが示されている。 LIMK1（英語版） MYBL2（英語版） MyoD（英語版） PCNA ^ a b c GRCh38: Ensembl release 89: ENSG00000273707、ENSG00000129757 - Ensembl, May 2017 ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000037664 - Ensembl, May 2017 ^ Human PubMed Reference: ^ Mouse PubMed Reference: ^ a b c “Entrez Gene: CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)”. 2022年2月12日閲覧。 ^ a b “p57KIP2, a structurally distinct member of the p21CIP1 Cdk inhibitor family, is a candidate tumor suppressor gene”. 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