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DESP Rabbit Polyclonal Antibody, 50ul Metabolic enzymes The protein encoded by SMARCB1

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DESP Rabbit Polyclonal Antibody, 50ul Metabolic enzymes The protein encoded by SMARCB1This gene encodes a protein that anchors intermediate filaments to desmosomal plaques and forms an obligate component of functional desmosomes. Mutations in this gene are the cause of several cardiomyopathies and keratodermas including skin fragility woolly hair syndrome. Alternative splicing results in multiple transcript variants.

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Description

The protein encoded by SMARCB1 (SWI/SNF related

The kinase is activated in response to hypotonic stress

An important paralog of this gene is UBAP2

This gene encodes a member of the kelch-like family of proteins that share a common domain structure consisting of an N-terminal broad-complex| tramtrack| bric-a-brac/poxvirus and zinc finger domain and C-terminal kelch repeat motifs

DESP Rabbit Polyclonal Antibody, 50ul Metabolic enzymes The protein encoded by SMARCB1This gene encodes a protein that anchors intermediate filaments to desmosomal plaques and forms an obligate component of functional desmosomes. Mutations in this gene are the cause of several cardiomyopathies and keratodermas including skin fragility woolly hair syndrome. Alternative splicing results in multiple transcript variants.

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