KAL1 Antibody
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中文名稱:KAL1兔多克隆抗體
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貨號:CSB-PA244292
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規(guī)格:¥2024
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圖片:
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其他:
產(chǎn)品詳情
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產(chǎn)品名稱:Rabbit anti-Homo sapiens (Human) ANOS1 Polyclonal antibody
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Uniprot No.:
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基因名:ANOS1
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宿主:Rabbit
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反應(yīng)種屬:Human
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免疫原:Synthesized peptide derived from internal of Human KAL1.
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免疫原種屬:Homo sapiens (Human)
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克隆類型:Polyclonal
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純化方式:The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
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濃度:It differs from different batches. Please contact us to confirm it.
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產(chǎn)品提供形式:Liquid
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應(yīng)用范圍:ELISA,WB
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推薦稀釋比:
Application Recommended Dilution WB 1:500-1:3000 -
Protocols:
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儲存條件:Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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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.
相關(guān)產(chǎn)品
靶點詳情
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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.
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基因功能參考文獻(xiàn):
- Tumor protein p73 (TAp73) and kallmann syndrome 1 sequence protein (KAI1) expression levels are positively correlated in colorectal cancer. PMID: 29222041
- 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
- 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
- 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
- The prevalence of ANOS1 gene mutations is higher in familial Chinese Kallmann Syndrome patients. PMID: 28780519
- 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
- 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
- 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
- FGF receptor 1-mediated anosmin-1 activity plays a crucial role in the continuous remodelling of the adult olfactory bulb. PMID: 25300351
- Study reports 2 new mutations in KAL1 gene from patients with septo-optic dysplasia proven to be loss-of-function. PMID: 26375424
- 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
- Kallmann syndrome with FGFR1 and KAL1 mutations was detected during fetal life PMID: 26051373
- 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
- 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
- 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
- Mutations were found in the following genes in one or more patients with congenital hypogonadotropic hypogonadism: KAL1, FGFR1, GNRHR, and CHD7 PMID: 24732674
- anosmin-1 has been identified in other pathological scenarios both within (multiple sclerosis) and outside (cancer, atopic dermatitis) the central nerve system. PMID: 25300141
- Anosmin-1 can facilitate tumor cell proliferation, migration, invasin, and survival. PMID: 24189182
- 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
- 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
- Increased presence of anosmin-1 in TGF-beta treated human retinal pigment epithelial cells cells, with distinct localization at the intercellular junctions. PMID: 23357298
- 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
- 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
- Peculiar prolactinomas in patients with pituitary developmental Kal 2 gene mutations PMID: 22801565
- 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
- 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
- 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
- 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
- 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
- Two new mutations were detected in KAL1 from male patients with idiopathic hypogonadotropic hypogonadism. PMID: 21351529
- Role of the KAL1 protein missense mutations in Kallman syndrome and in olfactory bulb development. PMID: 20530987
- Mutations of KAL1 underlie an autosomal dominant form of Kallmann syndrome. PMID: 20362962
- Anosmin-1 produced by epidermal keratinocytes in response to calcium concentrations or cytokines may modulate epidermal nerve density in atopic dermatitis. PMID: 20219326
- KAL1 gene expression plays an important role in cancer metastasis and protection from apoptosis. PMID: 19844165
- 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
- Identification of three novel mutations in the KAL1 gene in patients with Kallmann syndrome. PMID: 12050219
- AL1 gene product, the extracellular matrix protein anosmin-1, is involved in FGF signaling PMID: 12627230
- six novel and two recurrent intragenic KAL1 mutations in seven familial and four sporadic male cases of Kallmann syndrome PMID: 15001591
- it is unlikely that KAL gene mutations are a clinically significant cause of sporadic GnRH deficiency in female patients PMID: 15004876
- 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
- a direct action of anosmin-1 on the migratory activity of GnRH neurons is shown PMID: 15471890
- 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
- KAL1 gene has a closely related nonfunctional pseudogene on the Y chromosome PMID: 15636431
- analysis of the biological function of anosmin-1 and its ability to interact with its three macromolecular ligands PMID: 15949815
- 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
- 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
- KAL1 mutations result in a more severe reproductive phenotype than FGFR1/KAL2 mutations. PMID: 18160472
- 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
- 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
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相關(guān)疾?。?/div>Hypogonadotropic hypogonadism 1 with or without anosmia (HH1)亞細(xì)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(shù)據(jù)庫鏈接:
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