SALL1基因突变因子与药物介绍

该基因编码的蛋白是锌指转录抑制因子，可能是nurd组蛋白脱乙酰酶复合物（hdac）的一部分。该基因缺陷是townes-brocks综合征（tbs）和支气管耳肾综合征（bor）的病因之一。已经发现了两个编码不同亚型的转录变体。[由RefSeq提供，2008年7月]
The protein encoded by this gene is a zinc finger transcriptional repressor and may be part of the NuRD histone deacetylase complex (HDAC). Defects in this gene are a cause of Townes-Brocks syndrome (TBS) as well as bronchio-oto-renal syndrome (BOR). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]