SMARCB1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human SMARCB1 wild-type allele is located in the vicinity of 22q11.2 and is approximately 48 kb in length. This allele, which encodes SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily B, member 1 protein, plays a role in both the promotion of transcriptional activity and the modification of chromatin structure. The gene is mutated in malignant rhabdoid tumors and many epithelioid sarcomas.

**Synonyms:** - BAF47 - INI1 - Ini1 - MRD15 - PPP1R144 - Protein Phosphatase 1, Regulatory Subunit 144 Gene - RDT - RTPS1 - SNF5 - SNF5, Yeast, Homolog of Gene - SNF5L1 - SWI/SNF Related, Matrix Associated, Actin Dependent Regulator of Chromatin, Subfamily B, Member 1 wt Allele - SWNTS1 - Sfh1p - Snr1 - hSNF5/INI1 Gene - hSNFS