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RLBP1 Antibody

  • 货号：
    CSB-PA019743GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    P12271
  • 基因名：
    RLBP1
  • 别名：
    Cellular retinaldehyde binding protein 1 antibody; Cellular retinaldehyde binding protein antibody; Cellular retinaldehyde-binding protein antibody; MGC3663 antibody; Retinaldehyde binding protein 1 antibody; Retinaldehyde-binding protein 1 antibody; RLBP 1 antibody; RLBP1 antibody; RLBP1_HUMAN antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human RLBP1
  • 免疫原种属：
    Homo sapiens (Human)
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB,IHC
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

产品评价

靶点详情

  • 功能：
    Soluble retinoid carrier essential the proper function of both rod and cone photoreceptors. Participates in the regeneration of active 11-cis-retinol and 11-cis-retinaldehyde, from the inactive 11-trans products of the rhodopsin photocycle and in the de novo synthesis of these retinoids from 11-trans metabolic precursors. The cycling of retinoids between photoreceptor and adjacent pigment epithelium cells is known as the 'visual cycle'.
  • 基因功能参考文献：
    1. RLBP1 gene geographical area-related mutation is associated with retinitis punctata albescens. PMID: 28764803
    2. we provide evidence for an allosteric modulation of the enzymatic activity by 11-cis retinoids. This regulation is independent from cellular retinaldehyde-binding protein (CRALBP), the major cis-retinoid binding protein. PMID: 28096191
    3. These results show that joint tests of main effects and gene-gene interaction reveal associations at some novel loci that were missed when considering main effects alone. PMID: 28813576
    4. Different mutations in RLBP1 are correlated with quite different morphological and functional characteristics outlines the complexity of the protein. PMID: 25429852
    5. RLBP1 gene is upregulated in patients with reactive retinal astrocytic tumors. PMID: 24921169
    6. Patients with retinitis punctata albescens (RPA) show variable degrees of foveal cone death, even at an early stage. This finding has implications for future treatment. PMID: 23929416
    7. The two RLBP1 genotypes presented a phenotypical and electrophysiological expression of progressive retinal disease similar to that previously described in homozygotes for the c.700C>T (p.R234W) RLBP1 mutation. PMID: 22551409
    8. The clinical characteristics of a Japanese patient with a homozygous R234W mutation in RLBP1 are very similar to that of Swedish patients with Bothnia dystrophy. PMID: 22171637
    9. Identification of autoantibodies specific for two retinal antigens (CRALBP and S-Ag) supports the concept of an autoimmunological origin of the disease. PMID: 21904838
    10. The R234W mutation reveals impaired 11-cis-retinal release through stabilization of the ligand complex. PMID: 22183382
    11. mutations in RLBP1 are responsible for fundus albipunctatus in the affected individuals of these consanguineous Pakistani families. PMID: 21447491
    12. In the RLBP1-Bothnia dystrophy phenotype, a loss of function and thinning of the central macula are found, indicating early damage of the cone photoreceptors in this disease of the visual cycle. PMID: 20696998
    13. Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1 PMID: 11868161
    14. the M225K mutation abolishes and the R233W mutation tightens retinoid binding and both impair CRALBP function in the visual cycle as an 11-cis-retinol acceptor and as a substrate carrier. PMID: 12536144
    15. Trp-165, Met-208, Met-222, Met-225, and Trp-244 are components of the CRALBP ligand binding cavity. PMID: 12536149
    16. Patients with a clinical presentation of RPA (retinitis punctata albescens) can have genetically different mutations. PMID: 14718298
    17. Only eight RLBP1 mutations have been reported to date, and here we describe two novel mutations. PMID: 15234312
    18. Cellular retinaldehyde binding protein 1 (CRALBP) inhibits the reduction of 11-cis-retinal stronger than the oxidation of 11-cis-retinol, in accord with its higher affinity for 11-cis-retinal. PMID: 15865448
    19. A novel mutation in RLBP1 gene was found in a Japanese patient with retinitis punctata albescens. Degenerative changes of the outer retina were detected by optical coherence tomography PMID: 15953459
    20. Because of the high density of Alu elements in RLBP1, a systematic search should be made for deletions in this gene when one or both alleles lack point mutations, in the case of RPA or flecked retinal dystrophy. PMID: 17065479
    21. analysis of CRALBP ligand and protein interactions PMID: 17249612
    22. CRALBP transcripts in retinal pigment epithelium cells contain a noncoding exon in addition to a newly described promoter and, by definition, an additional intron PMID: 17652763
    23. The presence of CRALBP autoantibodies in 54% of tested uveitis patients supports CRALBP as a possible autoantigen in human autoimmune uveitis PMID: 18317528
    24. Bothnia dystrophy is caused by the loss of CRALBP function due to changed physical features and impaired activity of retinoid binding. PMID: 18344446
    25. These results reveal an unanticipated domino-like structural transition causing Bothnia-type retinal dystrophy by the impaired release of 11-cis-retinal from R234W. PMID: 19846785
    26. Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia PMID: 19165527

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  • 相关疾病：
    Bothnia retinal dystrophy (BRD); Rod-cone dystrophy Newfoundland (NFRCD); Retinitis punctata albescens (RPA)
  • 亚细胞定位：
    Cytoplasm.
  • 组织特异性：
    Retina and pineal gland. Not present in photoreceptor cells but is expressed abundantly in the adjacent retinal pigment epithelium (RPE) and in the Mueller glial cells of the retina.
  • 数据库链接：

    HGNC: 10024

    OMIM: 136880

    KEGG: hsa:6017

    STRING: 9606.ENSP00000268125

    UniGene: Hs.1933