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BBS7 Antibody Blocking Peptide

(bs-11509P)-500ug
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  • bs-11509P
  • 2025年10月16日
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      500ug

    产品编号bs-11509P
    英文名称BBS7 Antibody Blocking Peptide
    中文名称巴尔得-别德尔综合征相关蛋白7封闭多肽
    英文别名Bardet-Biedl syndrome 7; Bardet-Biedl syndrome 7 protein; BBS2-like 1; BBS7_HUMAN.
    纯化方法HPLC
    研究领域

    Neuroscience > Neurology process > Metabolism

    Neuroscience > Sensory System > Visual system

    亚基Part of BBSome complex, that contains BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex binds to PCM1 and tubulin. Interacts with BBS2 (via C-terminus). Interacts with CCDC28B.
    亚细胞定位Cell projection, cilium membrane. Cytoplasm
    组织特异性soform 2 is ubiquitously expressed. Isoform 1 is expressed in retina, lung, liver, testis, ovary, prostate, small intestine, liver, brain, heart and pancreas.
    功能BBS7 is a widely expressed protein with similarity to BBS2. Defects in BBS7 are a cause of Bardet-Biedl syndrome type 7 (BBS7) which is a genetically heterogeneous disorder characterized by usually severe pigmentary retinopathy, early onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. Two transcript variants encoding distinct isoforms have been identified for this gene.
    保存条件Shipped at 4℃. Stored at -20℃ for one year. Avoid repeated freeze/thaw cycles.
    注意事项This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
    背景资料Bardet-Biedl syndrome (BBS) is a pleiotropic genetic disorder characterized by obesity, photoreceptor degeneration, polydactyly, hypogenitalism, renal abnormalities, and developmental delay. BBS patients also have an increased risk of developing diabetes, hypertension, and congenital heart defects. BBS is a heterogeneous disorder mapping to eight genetic loci and encoding eight proteins, BBS1-BBS8. Five BBS proteins encode basal body or cilia proteins, suggesting that BBS is a ciliary dysfunction disorder. BBS2 contains two overlapping genes: BBS2L1 and BBS2L2. BBSL1 was re-named BBS7, whereas BBS2L2 independently funcitons as BBS1. BBS7 contains 672 amino acids and is expressed at low to moderate levels in most human tissues.

     

     

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