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Phospho-BLM (T99) Polyclonal Antibody, 50ul Bio-Reaction Tube Mutations in this gene are

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Phospho-BLM (T99) Polyclonal Antibody, 50ul Bio-Reaction Tube Mutations in this gene areThe Bloom syndrome gene product is related to the RecQ subset of DExH box containing DNA helicases and has both DNA stimulated ATPase and ATP dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3' 5' helicase activity. The normal protein may act to suppress inappropriate recombination.

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Description

Mutations in this gene are predicted to result in neurogenic defects

Nuclear receptor interacting protein 1 (NRIP1) is a nuclear protein that specifically interacts with the hormone-dependent activation domain AF2 of nuclear receptors

It has histone deacetylase activity and represses transcription when tethered to a promoter

Tyrosine protein kinases are important regulators of intracellular signal transduction pathways| mediating cellular proliferation| survival| and development

This enzyme is demonstrated to participate in the ubiquitination of p53

Phospho-BLM (T99) Polyclonal Antibody, 50ul Bio-Reaction Tube Mutations in this gene areThe Bloom syndrome gene product is related to the RecQ subset of DExH box containing DNA helicases and has both DNA stimulated ATPase and ATP dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3' 5' helicase activity. The normal protein may act to suppress inappropriate recombination.

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