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]
基因名: | SALL1 |
别名: | TBS,HSAL1,Sal-1,ZNF794,HEL-S-89 |
基因ID: | 6299 |
Chromosome: (GRCh37) | 16 Start: 51169886 End: 51185183 Strand: |
信号通路: |