HSNF5 | definition of hSNF5 by Medical dictionary
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.
Defects in SMARCB1 rhabdoid tumour predisposition syndrome type 1, schwannomatosis and mental retardation, autosomal dominant type 1.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
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
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.