Western blot using SMARCAL1 polyclonal antibody (Cat # PAB10063) shows detection of a band ~106 KDa band (arrowhead) corresponding to SMARCAL1 in human derived cultured cell lysates (HeLa nuclear extract at lane 1, HeLa at lane 2, A-431 at lane 3, Jurkat at lane 4, and 293 at lane 5). Approximately 5 ug of each lysates was run on a SDS-PAGE and transferred onto nitrocellulose followed by reaction with a 1:500 dilution of SMARCAL1 polyclonal antibody. Signal was detected using standard techniques. SMARCAL1 is the band seen between the 97 and 116kD markers.
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
HepA-related protein,OTTHUMP00000164057,SMARCA-like protein 1,SWI/SNF-related matrix-associated actin-dependent regulator of chromatin a-like 1