SMARCB1

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 ?
The common genetic basis for rhabdoid tumours is a deletion and/or mutation of the INI1 gene on chromosome 22 (22q11), inactivating the tumour suppressor gene SMARCB1, though these tumours can lack this mutation as seen in this case.
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.