BBS4 Antibody (N-term) Blocking peptide
€363.00
In stock
SKU
AC-BP11093a
Background:
This gene is a member of the Bardet-Biedl syndrome (BBS)gene family. Bardet-Biedl syndrome is an autosomal recessivedisorder characterized by severe pigmentary retinopathy, obesity,polydactyly, renal malformation and mental retardation. Theproteins encoded by BBS gene family members are structurallydiverse. The similar phenotypes exhibited by mutations in BBS genefamily members are likely due to the protein's shared roles incilia formation and function. Many BBS proteins localize to thebasal bodies, ciliary axonemes, and pericentriolar regions ofcells. BBS proteins may also be involved in intracellulartrafficking via microtubule-related transport. The protein encodedby this gene has sequence similarity to O-linkedN-acetylglucosamine (O-GlcNAc) transferases in plants andarchaebacteria and in human forms a multi-protein 'BBSome' complexwith six other BBS proteins. Alternative splice variants have beendescribed but their predicted protein products have not beenexperimentally verified.
Other Names:
Bardet-Biedl syndrome 4 protein, BBS4
Gene Name: BBS4
Gene ID: 585
Primary Accession: Q96RK4
Format: Peptides are lyophilized in a solid powder format. Peptides can be reconstituted in solution using the appropriate buffer as needed.
This gene is a member of the Bardet-Biedl syndrome (BBS)gene family. Bardet-Biedl syndrome is an autosomal recessivedisorder characterized by severe pigmentary retinopathy, obesity,polydactyly, renal malformation and mental retardation. Theproteins encoded by BBS gene family members are structurallydiverse. The similar phenotypes exhibited by mutations in BBS genefamily members are likely due to the protein's shared roles incilia formation and function. Many BBS proteins localize to thebasal bodies, ciliary axonemes, and pericentriolar regions ofcells. BBS proteins may also be involved in intracellulartrafficking via microtubule-related transport. The protein encodedby this gene has sequence similarity to O-linkedN-acetylglucosamine (O-GlcNAc) transferases in plants andarchaebacteria and in human forms a multi-protein 'BBSome' complexwith six other BBS proteins. Alternative splice variants have beendescribed but their predicted protein products have not beenexperimentally verified.
Other Names:
Bardet-Biedl syndrome 4 protein, BBS4
Gene Name: BBS4
Gene ID: 585
Primary Accession: Q96RK4
Format: Peptides are lyophilized in a solid powder format. Peptides can be reconstituted in solution using the appropriate buffer as needed.
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