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BBS4 产品

(Bardet-Biedl Syndrome 4 (BBS4))

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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].

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Featured BBS4 Categories

BBS4 抗体

High quality antibodies with extensive validation data.

BBS4 蛋白

Proteins for various applications incl. WB, ELISA, IF etc.

Recommended BBS4 抗体

Product
Reactivity
Application
Validations
Cat. No.
Quantity
Datasheet
Reactivity Human
Application WB, ELISA, IHC
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  • (3)
Cat. No. ABIN7145241
Quantity 100 μL
Datasheet Datasheet
Reactivity Human
Application WB, IP
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  • (3)
Cat. No. ABIN949989
Quantity 100 μL
Datasheet Datasheet
Reactivity Mouse
Application WB, ELISA, IF (cc), IF (p), ICC, IHC (p), IHC (fro)
Validations
  • (2)
Cat. No. ABIN1386165
Quantity 100 μL
Datasheet Datasheet

Recommended BBS4 蛋白

Product
Reactivity
Source
Validations
Cat. No.
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Datasheet
Reactivity Human
Source Wheat germ
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Cat. No. ABIN1346473
Quantity 10 μg
Datasheet Datasheet
Reactivity Human
Source Insect Cells
Validations
  • (1)
Cat. No. ABIN3090043
Quantity 1 mg
Datasheet Datasheet
Reactivity Mouse
Source Insect Cells
Validations
  • (1)
Cat. No. ABIN3136361
Quantity 1 mg
Datasheet Datasheet

Latest Publications for our BBS4 Products

Shah, Farmen, Moninger, Businga, Andrews, Bugge, Searby, Nishimura, Brogden, Kline, Sheffield, Welsh: "Loss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epithelia." in: Proceedings of the National Academy of Sciences of the United States of America, Vol. 105, Issue 9, pp. 3380-5, (2008) (PubMed).

Nachury, Loktev, Zhang, Westlake, Peränen, Merdes, Slusarski, Scheller, Bazan, Sheffield, Jackson: "A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis." in: Cell, Vol. 129, Issue 6, pp. 1201-13, (2007) (PubMed).

Badano, Leitch, Ansley, May-Simera, Lawson, Lewis, Beales, Dietz, Fisher, Katsanis: "Dissection of epistasis in oligogenic Bardet-Biedl syndrome." in: Nature, Vol. 439, Issue 7074, pp. 326-30, (2006) (PubMed).

Kim, Badano, Sibold, Esmail, Hill, Hoskins, Leitch, Venner, Ansley, Ross, Leroux, Katsanis, Beales: "The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression." in: Nature genetics, Vol. 36, Issue 5, pp. 462-70, (2004) (PubMed).

Ye, Dai, Fang, Jin, Guo, Song, Ji, Gu, Xie, Mao: "Cloning and characterization of a splice variant of human Bardet-Biedl syndrome 4 gene (BBS4)." in: DNA sequence : the journal of DNA sequencing and mapping, Vol. 15, Issue 3, pp. 213-8, (2004) (PubMed).

Synonyms and alternative names related to BBS4

Bardet-Biedl syndrome 4 (BBS4), Bardet-Biedl syndrome 4 (bbs4), bardet-biedl syndrome 4 (BBS4), Bardet-Biedl syndrome 4 (Bbs4), Bardet-Biedl syndrome 4 (human) (Bbs4), AW537059, AW742241, CG13232, D9Ertd464e, Dmel\\CG13232, zgc:152964

Protein level used designations for BBS4

  • BBS4-PA
  • CG13232-PA
  • Bardet-Biedl syndrome 4
  • Bardet-Biedl syndrome 4 protein homolog
  • bardet-biedl syndrome 4
  • bardet-Biedl syndrome 4 protein-like
  • Bardet-Biedl syndrome 4 protein-like
  • Bardet-Biedl syndrome 4 protein
  • Bardet-Biedl syndrome 4 homolog
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