Immunogen sequence: AENKDALEKT QTYLKVHSNL VIPDVELETY IPYSTPTLTP TDTFQTVETL TCLSLERNRL TDYYEPLLKN NSTAYSTRGN RIEISYENLQ VTNITRKGSM LPVSCKLPNM GTSQSYLSSS MPAGCVLPVG GNFEILLHYY LLNYAKKCHQ SEETMVSMII ANALLGIPKV LYKSKTGKYS FPHTYIRAVH ALQTNQPLVS SQTGLESVMG KYQLLTSVLQ CLTKILTIDM VITVKRHPQK VHNQDSEDEL; Positive Samples: A-549, A-431, HT-1080, HeLa, HepG2, Mouse liver; Cellular Location: Cell projection, cilium
BBS10 is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene is likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes.
蛋白别名: Bardet-Biedl syndrome 10 protein; Bardet-Biedl syndrome 10 protein homolog
基因别名: 1300007O09Rik; AI452285; BBS10; C12orf58