产品介绍 基因名： SMARCAL1 产品别名： HARP； HHARP； SMARCAL1； SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1； SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1； SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A-like protein 1； ATP-driven annealing helicase； HepA-related protein； SMARCA-like protein 1； sucrose nonfermenting protein 2-like 1； 蔗糖发酵蛋白2样蛋白1； 背景信息： 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] 标签：His-tag |
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