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

KAL1 Antibody

  • 中文名稱:
    KAL1兔多克隆抗體
  • 貨號:
    CSB-PA003089
  • 規格:
    ¥1090
  • 圖片:
    • Western Blot analysis of HuvEc cells using KALIG-1 Polyclonal Antibody
  • 其他:

產品詳情

  • Uniprot No.:
  • 基因名:
    ANOS1
  • 別名:
    Adhesion molecule-like X-linked antibody; ADMLX antibody; Anosmin-1 antibody; HHA antibody; KAL antibody; KAL1 antibody; KALIG 1 antibody; KALIG1 antibody; Kallmann syndrome 1 sequence (anosmin 1) antibody; Kallmann syndrome 1 sequence antibody; Kallmann syndrome interval gene 1 antibody; Kallmann syndrome protein antibody; KALM antibody; KALM_HUMAN antibody; KMS antibody; OTTHUMP00000022873 antibody
  • 宿主:
    Rabbit
  • 反應種屬:
    Human
  • 免疫原:
    Synthesized peptide derived from the Internal region of Human KALIG-1.
  • 免疫原種屬:
    Homo sapiens (Human)
  • 標記方式:
    Non-conjugated
  • 抗體亞型:
    IgG
  • 純化方式:
    The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
  • 濃度:
    It differs from different batches. Please contact us to confirm it.
  • 保存緩沖液:
    Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
  • 產品提供形式:
    Liquid
  • 應用范圍:
    WB, ELISA
  • 推薦稀釋比:
    Application Recommended Dilution
    WB 1:500-1:2000
    ELISA 1:10000
  • Protocols:
  • 儲存條件:
    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.

產品評價

靶點詳情

  • 功能:
    Has a dual branch-promoting and guidance activity, which may play an important role in the patterning of mitral and tufted cell collaterals to the olfactory cortex. Chemoattractant for fetal olfactory epithelial cells.
  • 基因功能參考文獻:
    1. Tumor protein p73 (TAp73) and kallmann syndrome 1 sequence protein (KAI1) expression levels are positively correlated in colorectal cancer. PMID: 29222041
    2. A pathogenic variant was identified in the ANOS1 gene on the X chromosome: c.1267C>T, in 2 brothers who were hemizygous, and their mother, who was heterozygous for the variant. PMID: 29211946
    3. Hemizygous mutations were identified in three Kallman syndrome cases: a novel splice acceptor site mutation leading to skipping of exon 5 in the ANOS1 transcript in a patient with self-reported normosmia (but hyposmic upon testing); a recurrent nonsense mutation and a novel 4.8 Mb deletion involving ANOS1 and eight other genes (VCX3B, VCX2, PNPLA4, VCX, STS, HDHD1, VCX3A and NLGN4X) in KS associated with ichthyosis. PMID: 28122887
    4. ANOS1 expression shows continuous activation during the progression of colorectal cancer, its expression is closely related to the overall survival rate of patients. PMID: 28854193
    5. The prevalence of ANOS1 gene mutations is higher in familial Chinese Kallmann Syndrome patients. PMID: 28780519
    6. This study presents the first experimental evidence indicating a molecular interaction between anosmin 1 and PKR2. A truncated anosmin 1 protein comprising the first three domains of the protein interacts with the second extracellular loop of PKR2, involved in PK2 binding. PMID: 27184500
    7. Anosmin-1 over-expression regulates oligodendrocyte precursor cell proliferation, migration and myelin sheath thickness. Data confirmed the involvement of (A1) works as a chemotropic cue contributing to axonal outgrowth and in oligodendrogliogenesis and its relevance for myelination. PMID: 25662897
    8. two novel variants, KAL1 (c.146G>T (p.Cys49Phe)) and mitochondrial tRNAcys (m.5800A>G), were identified in a large Han Chinese family with inherited Kallmann syndrome; although two variants can't exert obvious effects on the migration of GnRH neurons, they show a synergistic effect, which can account for the occurrence of the disorder in this family PMID: 26278626
    9. FGF receptor 1-mediated anosmin-1 activity plays a crucial role in the continuous remodelling of the adult olfactory bulb. PMID: 25300351
    10. Study reports 2 new mutations in KAL1 gene from patients with septo-optic dysplasia proven to be loss-of-function. PMID: 26375424
    11. data indicated KAL1 plays potential suppressive role on OSCC initiation and progression. KAL1 gene may serve as adjuvant biomarker for identification of pathological grade. PMID: 25060050
    12. Kallmann syndrome with FGFR1 and KAL1 mutations was detected during fetal life PMID: 26051373
    13. Our analyses show that the two phenotypes in our patient are due to independent genetic defects: a genomic rearrangement involving the KAL1 gene and a point mutation of the steryl-sulfatase gene. PMID: 25726327
    14. Results indicated that KAL1 may act as a putative tumor suppressor in hepatocellular carcinoma (HCC) and is inactivated by promoter hypermethylation. KAL1 may serve as a biomarker of malignant phenotype of HCC. PMID: 25892360
    15. No abnormalities were found in the patient group for the PROKR2 and GNRH1genes. In addition, no genomic rearrangements were identified in the healthy control individuals for the described genes PMID: 24002956
    16. Mutations were found in the following genes in one or more patients with congenital hypogonadotropic hypogonadism: KAL1, FGFR1, GNRHR, and CHD7 PMID: 24732674
    17. anosmin-1 has been identified in other pathological scenarios both within (multiple sclerosis) and outside (cancer, atopic dermatitis) the central nerve system. PMID: 25300141
    18. Anosmin-1 can facilitate tumor cell proliferation, migration, invasin, and survival. PMID: 24189182
    19. Two brothers presented with a sensorineural hearing impairment associated with cryptorchidism and abnormal movements. Genome-wide array analysis identified a large deletion of KAL1 in both patients confirming the diagnosis of Kallmann syndrome. PMID: 24232061
    20. These results indicate that intragenic multiexon deletions are one of the most frequent KAL1 abnormalities, which can be more accurately detected by multiplex ligation-dependent probe amplification. PMID: 23721716
    21. Increased presence of anosmin-1 in TGF-beta treated human retinal pigment epithelial cells cells, with distinct localization at the intercellular junctions. PMID: 23357298
    22. Mutation analysis reveals a missense mutation of KAL1 in two brothers with Kallmann syndrome, while their mother is heterozygous for this missense mutation encoded by the single-nucleotide polymorphism rs2229013. PMID: 23410897
    23. genetic association studies in population in Massachusetts: Data suggest that clinical features in Kallmann syndrome (KS) are highly associated with genetic causes: synkinesia is associated with genetic variations/mutations in KAL1. PMID: 23533228
    24. Peculiar prolactinomas in patients with pituitary developmental Kal 2 gene mutations PMID: 22801565
    25. we demonstrate that missense mutations reported in patients with KS, C172R and N267K did not alter or substantially reduce, respectively, the binding to FGFR1 PMID: 23189990
    26. A central role of KAL-1, in GnRH neuron ontogeny - specifically in GnRH neuronal migration from the cribriform plate area into the brain. PMID: 21497178
    27. we report the case of a deletion of exons 4 to 14 (c.469-?_6314+?del) within the KAL1 gene in two related patients and in three female carriers among the members of the presented family. PMID: 21717404
    28. The results of this study proposed that FGF-2 and Anosmin-1 are markers for the histopathological type and the level of inflammation of multiple sclerosis lesions PMID: 22016523
    29. Comprehensive mutation analysis of all 7 known KS genes (KAL1, FGFR1, FGF8, PROK2, PROKR2, CHD7, and WDR11) in 30 well-phenotyped probands revealed mutations in KAL1 (3 men) and FGFR1 (all 5 women vs. 4/25 men), but not in other genes in Finland patients. PMID: 21682876
    30. Two new mutations were detected in KAL1 from male patients with idiopathic hypogonadotropic hypogonadism. PMID: 21351529
    31. Role of the KAL1 protein missense mutations in Kallman syndrome and in olfactory bulb development. PMID: 20530987
    32. Mutations of KAL1 underlie an autosomal dominant form of Kallmann syndrome. PMID: 20362962
    33. Anosmin-1 produced by epidermal keratinocytes in response to calcium concentrations or cytokines may modulate epidermal nerve density in atopic dermatitis. PMID: 20219326
    34. KAL1 gene expression plays an important role in cancer metastasis and protection from apoptosis. PMID: 19844165
    35. report describes 2 intragenic deletions of KAL-1 in 2 Kallmann syndrome (KS) patients & suggests KAL-1 deletion may be more prevalent in KS patients with other congenital organ abnormalities than those described previously from Northwestern China PMID: 19734936
    36. Identification of three novel mutations in the KAL1 gene in patients with Kallmann syndrome. PMID: 12050219
    37. AL1 gene product, the extracellular matrix protein anosmin-1, is involved in FGF signaling PMID: 12627230
    38. six novel and two recurrent intragenic KAL1 mutations in seven familial and four sporadic male cases of Kallmann syndrome PMID: 15001591
    39. it is unlikely that KAL gene mutations are a clinically significant cause of sporadic GnRH deficiency in female patients PMID: 15004876
    40. anosmin-1 may modulate the catalytic activity of uPA and its signalling pathway, whereas HS determines cell surface localization of the anosmin-1-uPA complex PMID: 15324302
    41. a direct action of anosmin-1 on the migratory activity of GnRH neurons is shown PMID: 15471890
    42. anosmin-1 is an isoform-specific co-ligand modulator of FGFR signaling that amplifies and specifies FGFR1 signaling responses during human nervous system development and defines the link between autosomal and X-linked Kallmann's syndrome PMID: 15548653
    43. KAL1 gene has a closely related nonfunctional pseudogene on the Y chromosome PMID: 15636431
    44. analysis of the biological function of anosmin-1 and its ability to interact with its three macromolecular ligands PMID: 15949815
    45. Data suggest that the relative concentrations of Anosmin-1 and FGF-2 modulate the migration of oligodendrocyte precursors during development through their interaction with FGFR1. PMID: 16876430
    46. The phenotype of renal agenesis/dysgenesis strongly indicates the existence of KAL1 gene defects in the genotype of patients with sporadic Kallmann syndrome. PMID: 17603054
    47. KAL1 mutations result in a more severe reproductive phenotype than FGFR1/KAL2 mutations. PMID: 18160472
    48. 12% of Kallman syndrome males have KAL1 deletions, but intragenic deletions of the FGFR1, GNRH1, GNRHR, GPR54 and NELF genes are uncommon in Idiopathic hypogonadotropic hypogonadism/Kallman syndrome. PMID: 18463157
    49. binding of anosmin-1 to FGFR1 and heparin can play a dual role in assembly and activity of the ternary FGFR1.FGF2.heparin complex. PMID: 19696444

    顯示更多

    收起更多

  • 相關疾病:
    Hypogonadotropic hypogonadism 1 with or without anosmia (HH1)
  • 亞細胞定位:
    Cell membrane; Peripheral membrane protein. Secreted. Note=Proteolytic cleavage may release it from the cell surface into the extracellular space.
  • 組織特異性:
    Expressed in the cerebellum (at protein level).
  • 數據庫鏈接:

    HGNC: 6211

    OMIM: 300836

    KEGG: hsa:3730

    STRING: 9606.ENSP00000262648

    UniGene: Hs.521869



主站蜘蛛池模板: 亚洲中文字幕无码日韩| 精品国产乱码久久久软件下载| 国产下药迷倒白嫩美女网站| 国产人妻人伦精品1国产盗摄 | 美女张开腿让人桶| 成在线人av无码高潮喷水| 韩国 欧美 日产 国产精品| 国产精品视频免费一区二区| 人妻少妇无码精品视频区| 人妻丰满熟妞av无码区| 国产内射老熟女aaaa∵| 久久久综合九色合综国产精品| 成人国产一区二区三区精品不卡 | 国产三级视频在线播放线观看| 好硬好湿好爽再深一点动态图视频| 国产人妖xxxx做受视频| 夜夜爱夜夜做夜夜爽| 亚洲人成人无码www| 免费人成在线观看网站品爱网| 艳妇荡女欲乱双飞两中年熟妇| 唐人社导航福利精品| 国产极品美女到高潮| 免费现黄频在线观看国产| 国产人妻精品一区二区三首| 无码一区二区三区视频| 国内精品伊人久久久久7777| 日韩高清亚洲日韩精品一区| 伊人久久大香线蕉综合bd高清| 免费无码午夜理论电影| 亚洲国产欧美在线观看| 特级无码毛片免费视频尤物| 无码国产玉足脚交极品播放| 日韩中文字幕在线专区| 国产激情з∠视频一区二区| 国产精品无码无需播放器| 欧美激情一区二区成人| 亚洲欧美不卡高清在线| 国产女主播喷水视频在线观看| 亚洲精品美女久久久久99| 免费人成在线观看视频无码| 欧美高清大屁股xxxxx|