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[Clinical Sequelae of Mutation of the CBP Gene]

[Clinical Sequelae of Mutation of the CBP Gene]

J Smardová, J Smarda

Cas Lek Cesk. 1999 Dec 13;138(24):739-43.

PMID: 10746038

Abstract:

Gene CBP codes for a transcriptional coactivator, which can interact with many transcriptional factors. It modifies the process of transcription stimulated by these factors by specific binding to RNA polymerase II holoenzyme or by histone acetylation. CBP gene mutation is the molecular cause of autosomal dominant genetic disease called Rubinstein-Taybi syndrome that is manifested by mental and growth retardations, by typical face malformations and broad thumbs and broad big toes. The CBP gene can be affected by the t(8;16)(p11;p13.3) translocation resulting in production of the MOZ/CBP chimeric protein and in induction of acute myeloblastic leukaemia. Therapy using topoisomerase II inhibitors can induce the t(11;16)(q23;13.3) translocation causing acute myeloid or lymphoid leukaemia or myelodysplasia through production of the MLL/CBP protein chimera.

Chemicals Related in the Paper:

Catalog Number	Product Name	Structure	CAS Number	Price
AP932749627	Histone Acetyltransferase Inhibitor II - CAS 932749-62-7		932749-62-7	Price

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