SMARCAL1

这个基因编码的蛋白质是swi/snf蛋白质家族的一员。这个家族的成员有螺旋酶和atpase活性，被认为通过改变这些基因周围的染色质结构来调节某些基因的转录。编码蛋白与大肠杆菌rna聚合酶结合蛋白hepa序列相似。该基因突变是schimke免疫骨发育不全（siod）的原因，siod是一种常染色体隐性遗传疾病，具有脊椎骨骺发育不全、肾功能不全和t细胞免疫缺陷的诊断特征。[由RefSeq提供，2008年7月]
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]