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巴德-毕德氏综合征蛋白BBS6抗体
半岛bd体育手机客户端 介绍
靶标:
MKKS 半岛bd体育手机客户端 别名: BBS6; HMCS; KMS; MKS; MKKS; MKKS centrosomal shuttling protein; MKKS centrosomal shuttling protein; McKusick-Kaufman/Bardet-Biedl syndromes putative chaperonin; Bardet-Biedl syndrome 6 protein; alternative protein MKKS; 巴德-毕德氏综合征蛋白BBS6; 背景信息:
This gene encodes a protein which shares sequence similarity with other members of the type II chaperonin family. The encoded protein is a centrosome-shuttling protein and plays an important role in cytokinesis. This protein also interacts with other type II chaperonin members to form a complex known as the BBSome, which involves ciliary membrane biogenesis. This protein is encoded by a downstream open reading frame (dORF). Several upstream open reading frames (uORFs) have been identified, which repress the translation of the dORF, and two of which can encode small mitochondrial membrane proteins. Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 6, also known as McKusick-Kaufman syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013],
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