BBS4 Rabbit Polyclonal Antibody
Other products for "BBS4"
Specifications
Product Data | |
Applications | WB |
Reactivities | Human |
Host | Rabbit |
Clonality | Polyclonal |
Immunogen | The immunogen is a synthetic peptide directed towards the N terminal region of human BBS4 |
Specificity | Expected reactivity: Human |
Formulation | Liquid. Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose. |
Concentration | lot specific |
Purification | Affinity purified |
Conjugation | Unconjugated |
Storage | For short term use, store at 2-8°C up to 1 week. For long term storage, store at -20°C in small aliquots to prevent freeze-thaw cycles. |
Predicted Protein Size | 57 kDa |
Gene Name | Bardet-Biedl syndrome 4 |
Database Link | |
Background | 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 cognitive disability. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's 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 has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein "BBSome" complex with seven other BBS proteins. Alternate splicing results in multiple transcript variants. |
Synonyms | BBS4 |
Reference Data |
Documents
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