SMARCB1

(redirected from hSNF5)

SMARCB1

A gene on chromosome 22q11.23 that encodes a core component of the ATP-dependent chromatin-remodelling BAF (hSWI/SNF) complex, which plays key roles in cell proliferation and differentiation and has antiviral and anti-tumour activity.

Molecular pathology
Defects in SMARCB1 rhabdoid tumour predisposition syndrome type 1, schwannomatosis and mental retardation, autosomal dominant type 1.
References in periodicals archive ?
Kekarainen et al., "p16INK4a Is Required for hSNF5 Chromatin Remodeler-induced Cellular Senescence in Malignant Rhabdoid Tumor Cells," The Journal of Biological Chemistry, vol.
INI1 (also known as hSNF5 and SMARCB1) is a member of the SWI/SNF chromatin remodeling complex located on chromosome band 22q11.2.
Reexpression of the hSNF5 gene in MRT cell lines induces G1 cell cycle arrest and activation of senescence-associated proteins [93-96].
SChLAP1 can bind directly to hSNF5, one of the core subunits of the SWI/SNF complexes, thus, decreasing their genomic binding.
(6) The tumor is characterized by deletions and mutations of SMARCB1/ INI1 (HSNF5) (22q11.2).
Most characteristic is the loss of expression of INI-1 (also known as BAF-47, SMARCB1, or hSNF5; Figure 9, F) and the associated cytogenetic change, monosomy 22.