Immunogen sequence: IVTSLCPMYG SRFGYALSNG TVGVYDKTSR YWRIKSKNHA MSIHAFDLNS DGVNELITGW SNGKVDARSD RTGEVIFKDN FSSAIAGVVE GDYRMDG
Highest antigen sequence identity to the following orthologs: Mouse - 96%, Rat - 96%.
This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, 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 forms a multiprotein BBSome complex with six other BBS proteins.
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Protein Aliases: Bardet-Biedl syndrome 2; Bardet-Biedl syndrome 2 protein; BBS; MGC20703
Gene Aliases: BBS; BBS2; RP74
UniProt ID: (Human) Q9BXC9
Entrez Gene ID: (Human) 583