BBS4
Bardet-Biedl syndrome 4
Synonyms:
Species:
Human BBS4 (585), Mouse Bbs4 (102774), Rat Bbs4 (300754), Zebrafish bbs4 (768303), fruit fly BBS4 (36167), dog BBS4 (487634), cow BBS4 (532120), Horse BBS4 (100063282), domestic cat BBS4 (101090871), chicken BBS4 (415318) ...More
UniProtKB ID:
Gene ID:
- Human(585) Summary: 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. 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 six other BBS proteins. Alternative splice variants have been described but their predicted protein products have not been experimentally verified.[provided by RefSeq, Jan 2009]
- Mouse(102774) Bardet-Biedl syndrome 4 (human)
- Rat(300754) Bardet-Biedl syndrome 4
- Zebrafish(768303) Bardet-Biedl syndrome 4
- fruit fly(36167) CG13232 gene product from transcript CG13232-RA
- dog(487634) Bardet-Biedl syndrome 4
- cow(532120) Bardet-Biedl syndrome 4
- Horse(100063282) Bardet-Biedl syndrome 4
- domestic cat(101090871) Bardet-Biedl syndrome 4
- chicken(415318) Bardet-Biedl syndrome 4
- naked mole-rat(101707988) Bardet-Biedl syndrome 4
- sheep(101110416) Bardet-Biedl syndrome 4
- Domestic Rabbit(100347284) Bardet-Biedl syndrome 4
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Antibodies
Product Number
Description
Species Reactivity
Application
Anti-BBS4 antibody produced in rabbit, Prestige Antibodies® Powered by Atlas Antibodies, affinity isolated antibody, buffered aqueous glycerol solution,
Species Reactivity
human
Application
immunohistochemistry
western blot
western blot
Anti-BBS4 (center) antibody produced in rabbit, saturated ammonium sulfate (SAS) precipitated, buffered aqueous solution,
Species Reactivity
human
Application
ELISA
western blot
western blot