在线日韩日本国产亚洲丨少妇伦子伦情品无吗丨欧美性猛交xxxx免费看蜜桃丨精品人妻系列无码一区二区三区丨亚洲精品无码不卡在线播放

Your Good Partner in Biology Research

  1. Home
  2. 抗體
  3. 多克隆抗體
  4. ATP6V1B1 Antibody

ATP6V1B1 Antibody

  • 中文名稱：
    ATP6V1B1兔多克隆抗體
  • 貨號(hào)：
    CSB-PA002397GA01HU
  • 規(guī)格：
    ￥3,900
  • 其他：

產(chǎn)品詳情

  • Uniprot No.：
  • 基因名：
  • 別名：
    Atp6b1 antibody; ATP6V1B1 antibody; ATPase; H+ transporting; lysosomal (vacuolar proton pump); beta 56/58 kDa; isoform 1 antibody; ATPase; H+ transporting; lysosomal 56/58kDa; V1 subunit B; isoform 1 antibody; ATPase; H+ transporting; V1 subunit B; isoform 1 antibody; Endomembrane proton pump 58 kDa subunit antibody; H(+) transporting two sector ATPase 58kD subunit antibody; H+ ATPase beta 1 subunit antibody; kidney isoform antibody; Lysosomal 56/58kDa antibody; MGC32642 antibody; RTA1B antibody; V ATPase B1 subunit antibody; V type proton ATPase subunit B kidney isoform antibody; V type proton ATPase subunit B; kidney isoform antibody; V-ATPase subunit B 1 antibody; V-type proton ATPase subunit B antibody; Vacuolar proton pump 3 antibody; Vacuolar proton pump subunit 3 antibody; Vacuolar proton pump subunit B 1 antibody; VATB antibody; VATB1_HUMAN antibody; VMA2 antibody; Vpp 3 antibody; Vpp3 antibody
  • 宿主：
    Rabbit
  • 反應(yīng)種屬：
    Human,Mouse,Rat
  • 免疫原：
    Human ATP6V1B1
  • 免疫原種屬：
    Homo sapiens (Human)
  • 抗體亞型：
    IgG
  • 純化方式：
    Antigen Affinity purified
  • 濃度：
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液：
    PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 產(chǎn)品提供形式：
    Liquid
  • 應(yīng)用范圍：
    ELISA,WB
  • Protocols：
  • 儲(chǔ)存條件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 貨期：
    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.
  • 用途：
    For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

  • 功能：
    Non-catalytic subunit of the V1 complex of vacuolar(H+)-ATPase (V-ATPase), a multisubunit enzyme composed of a peripheral complex (V1) that hydrolyzes ATP and a membrane integral complex (V0) that translocates protons. V-ATPase is responsible for acidifying and maintaining the pH of intracellular compartments and in some cell types, is targeted to the plasma membrane, where it is responsible for acidifying the extracellular environment. Essential for the proper assembly and activity of V-ATPase. In renal intercalated cells, mediates secretion of protons (H+) into the urine thereby ensuring correct urinary acidification. Required for optimal olfactory function by mediating the acidification of the nasal olfactory epithelium.
  • 基因功能參考文獻(xiàn)：
    1. RhCG and H+ATPases are located within the same cellular protein complex in the kidney and this interaction is required for maximal urinary acidification by H+-ATPases, a prerequisite for efficient NH3 secretion and urine excretion of NH4+. PMID: 29054531
    2. The p. P137S and p. R302W mutations in ATP6V1B1 and p. S473F and p. R807X in ATP6V0A4, were novel disease-causing mutations of distal renal tubular acidosis. PMID: 30230413
    3. Distal renal acidosis patient carries two novel mutations, one in each of the genes ATP6V0A4 and ATP6V1B1. PMID: 29024829
    4. A novel c.1169dupC frameshift mutation of ATP6V1B1 gene was identified in one family and the c.1155dupC North African mutation in 2 other families. Both mutations are located in exon 12 of ATP6V1B1 gene in Moroccan patients with recessive form of distal renal tubular acidosis associated with precocious hearing loss. PMID: 27140593
    5. The aim of this work was to analyze the prevalence of genetic defects in SLC4A1, ATP6V0A4, and ATP6V1B1 genes and to assess the clinical phenotype of distal renal tubular acidosis patients that are eventually typical of the different genetic forms of the disease. PMID: 28233610
    6. Our data indicate that recurrent stone formers with the vacuolar H(+)-ATPase B1 subunit p.E161K SNP exhibit a urinary acidification deficit with an increased prevalence of calcium phosphate-containing kidney stones PMID: 26453614
    7. ATP6V1B1 genetic mutations were detected in more than half of the families studied. Mutations in this gene therefore seem to be the most common causative factors in hearing loss associated with distal renal tubular acidosis in these families. PMID: 25498251
    8. Two founder mutations in the ATP6V1B1 gene were found in 16/27 dRTA cases. PMID: 25285676
    9. Two probands from different kindreds with mutations in ATP6V1B1 presented early onset profound sensorineural hearing loss PMID: 24975934
    10. demonstration of renal acidification defects and nephrolithiasis in heterozygous carriers of a mutant B1 subunit that cannot be attributable to negative dominance; propose that heterozygosity may lead to mild real acidification defects due to haploinsufficiency PMID: 25164082
    11. Rare and family-specific variants in ATP6V1B1 are responsible for distal renal tubular acidosis and sensorineural hearing loss syndrome in Turkey. PMID: 23923981
    12. Mutations of the ATP6V1B1 gene is associated with primary distal renal tubular acidosis. PMID: 23729491
    13. Three ATP6V1B1 mutations were observed: one frameshift mutation in exon 12; a G to C single nucleotide substitution, on the acceptor splicing site in intron 2, and one novel missense mutation in exon 11. PMID: 24252324
    14. Data indicate that direct sequencing of the ATP6V1B1 gene showed one patient harbors two homozygous mutations and the other one is a compound heterozygous. PMID: 22509993
    15. Only two ATP6V1B1 mutations are found in a Cypriot population with distal renal tubular acidosis. PMID: 20805693
    16. This study indicated that a significant percentage of the children with DRTA had sensorineural hearing loss and mutation in ATP6V1B1 gene. PMID: 20622307
    17. two novel mutations of a heterozygous 15 base-pair deletion (c.756_770del) in exon 7 and a heterozygous 1 base-pair insertion (c.1242_1243insC) in exon 12 in distal renal tubular acidosis and hearing loss PMID: 20233014
    18. Two siblings with distal renal tubular acidosis and sensorineural deafness having mutation in the first coding exon of the ATP6V1B1 gene , resulting in a non functional protein, are reported. The parents were found to be carriers for the mutation. PMID: 19478356
    19. Here, we describe the molecular findings of the first two Greek Cypriot families with recessive dRTA and the long-term clinical findings in four of five affected members. PMID: 16433694
    20. This report describes a new mutation in the ATP6V1B1 gene responsible for distal renal tubular acidosis. PMID: 17216496
    21. A mutation in ATP6V1B1 is associated with enlarged vestibular aqueduct and early onset of sensorial hearing loss. PMID: 19639346

    顯示更多

    收起更多

  • 相關(guān)疾病：
    Renal tubular acidosis, distal, with progressive nerve deafness (dRTA-D)
  • 亞細(xì)胞定位：
    Apical cell membrane. Basolateral cell membrane.
  • 蛋白家族：
    ATPase alpha/beta chains family
  • 組織特異性：
    Kidney; localizes to early distal nephron, encompassing thick ascending limbs and distal convoluted tubules (at protein level). Expressed in the cochlea and endolymphatic sac.
  • 數(shù)據(jù)庫(kù)鏈接：

    HGNC: 853

    OMIM: 192132

    KEGG: hsa:525

    STRING: 9606.ENSP00000234396

    UniGene: Hs.64173



主站蜘蛛池模板： 日产精品卡1卡2卡三卡在线| √天堂中文www官网在线| 亚洲αⅴ无码乱码在线观看性色 | 久久久久久亚洲综合影院| 欧美婷婷六月丁香综合色| 久久大香国产成人av| 亚洲人成在线影院| 丰满少妇弄高潮了www| av大片在线无码永久免费| 蜜臀av色欲a片无人一区| 在线看片国产日韩欧美亚洲| 免费吃奶摸下激烈视频| 国产成人精品a视频| 精品国产美女av久久久久| 日韩人妻不卡一区二区三区| 日本熟人妻中文字幕在线| 亚洲欧美国产精品久久久久久久 | 最近中文字幕免费mv在线视频| 欧美大波少妇在厨房被| 播放灌醉水嫩大学生国内精品 | 99国产精品久久久久久久成人| 2022久久国产精品免费热麻豆| 久久久久99精品成人品| 天天躁人人躁人人躁狂躁| 久久精品国产免费观看| 欧亚精品一区三区免费| 美女视频黄的全免费视频网站| 蜜臀久久99精品久久久久久小说| 中国丰满少妇人妻xxx性董鑫洁 | 无码色av一二区在线播放| 无码一区二区| 亚洲一区无码中文字幕乱码| 国产精品爽爽ⅴa在线观看| 草的我好爽视频| 亚洲精品白浆高清久久久久久| 色欲视频综合免费天天| 国产在线高清视频无码| 中文字字幕人妻中文| 亚洲一区二区观看播放| 亚洲成a人v在线蜜臀| 国产精品久久久久影院色|