The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency. [provided by RefSeq, Jul 2008]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| SMARCAL1-20-RE | 20 (40 μL) | 200 μL |  |
Request Pricing |
| SMARCAL1-20-OR | 20 (40 μL) | 200 μL |  |
Request Pricing |
| SMARCAL1-20-GO | 20 (40 μL) | 200 μL |  |
Request Pricing |
| SMARCAL1-20-GR | 20 (40 μL) | 200 μL |  |
Request Pricing |
| SMARCAL1-20-AQ | 20 (40 μL) | 200 μL |  |
Request Pricing |
The protein encoded by this gene is a member of the SWI/SNF family of proteins. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein shows sequence similarity to the E. coli RNA polymerase-binding protein HepA. Mutations in this gene are a cause of Schimke immunoosseous dysplasia (SIOD), an autosomal recessive disorder with the diagnostic features of spondyloepiphyseal dysplasia, renal dysfunction, and T-cell immunodeficiency. [provided by RefSeq, Jul 2008]
Gene Symbol : SMARCAL1
Gene Name : SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1
Chromosome : CHR 2: 216,412,413-216,483,052
Locus : 2q35
Alt. Genes : ZNF263
Lorem Ipsum is simply dummy text of the printing and typesetting industry.
Lorem Ipsum is simply dummy text of the printing and typesetting industry.