Smarcb1 gene

Author:Prof. Dr. med. Peter Altmeyer

Last updated on: 29.10.2020

Synonym(s)

AU020204; Baf47; fc51b01; hSNFS; Ini1; MRD15; RDT; RTPS1; Sfh1p; smarcb1; Snf5; SNF5/INI1; SNF5L1; Snr1; wu:fc51b01

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DefinitionThis section has been translated automatically.

SMARCB1 stands for the acronym: SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1 SMARCB1 is a protein-encoding tumor suppressor gene located on chromosome 22.

Among others, the following diseases are associated with mutations in the SMARCB1 gene: rhabdoid tumors, epithelioid sarcoma (22q1-2).

LiteratureThis section has been translated automatically.

Kohashi K et al (20149 ERG and SALL4 expressions in SMARCB1/INI1-deficient tumors: a useful tool for distinguishing epithelioid sarcoma from malignant rhabdoid tumor. Hum Pathol 46: 225-230.

Authors

Last updated on: 29.10.2020

Author: Prof. Dr. med. Peter Altmeyer