服务热线：
- 商品货号：G112614
- accession：NM_018190
- 基因别名：BBS7
- 基因描述：Homo sapiens Bardet-Biedl syndrome 7 (BBS7), transcript variant 2, mRNA.
- 载体：现货载体
- CDS区长度：2019
- 翻译后氨基酸长度：672
- TranscriptVariant：This variant (2) differs in the 3' UTR, and coding region compared to variant 1. The resulting isoform (b) maintains the reading frame but is shorter at the C-terminus, compared to isoform a.
- 基因简介：This gene encodes one of seven proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8 and BBS9. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Feb 2011]
- 规格：10ul 质粒
CDS区参考序列： 点击查看序列翻译后氨基酸参数序列： 点击查看序列
服务时间：24小时在线客服
客服热线：400-000-7085
丰晖生物
中国优质生物资源平台
在线客服