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英文名称: LZTFL1 Antigen (Recombinant Protein)
	
储 存: 冷冻(-20℃)
	
别 名: BBS17
相关类别: 抗原
概述
| Full length fusion protein | 
		
	
| Full name: | leucine zipper transcription factor-like 1 | 
| Synonyms: | BBS17 | 
| Swissprot: | Q9NQ48 | 
| Gene Accession: | BC025988 | 
| Purity: | >85%, as determined by Coomassie blue stained SDS-PAGE | 
| Expression system: | Escherichia coli | 
| Tags: | His tag C-Terminus, GST tag N-Terminus | 
| Background: | This gene encodes a ubiquitously expressed protein that localizes to the cytoplasm. This protein interacts with Bardet-Biedl Syndrome (BBS) proteins and, through its interaction with BBS protein complexes, regulates protein trafficking to the ciliary membrane. Nonsense mutations in this gene cause a form of Bardet-Biedl Syndrome; a ciliopathy characterized in part by polydactyly, obesity, cognitive impairment, hypogonadism, and kidney failure. This gene may also function as a tumor suppressor; possibly by interacting with E-cadherin and the actin cytoskeleton and thereby regulating the transition of epithelial cells to mesenchymal cells. Alternative splicing of this gene results in multiple transcript variants. |