ATOH7 Antibody
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货号:CSB-PA850773ESR1HU
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规格:¥440
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促销:
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产品详情
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产品名称:Rabbit anti-Homo sapiens (Human) ATOH7 Polyclonal antibody
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Uniprot No.:Q8N100
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基因名:ATOH7
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别名:ATOH7 antibody; ATOH7_HUMAN antibody; Atonal homolog 7 (Drosophila) antibody; Atonal Homolog 7 antibody; bHLHa13 antibody; Class A basic helix-loop-helix protein 13 antibody; hATH5 antibody; Helix-loop-helix protein hATH-5 antibody; Math5 antibody; Protein atonal homolog 7 antibody
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宿主:Rabbit
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反应种属:Human
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免疫原:Recombinant Human Protein atonal homolog 7 protein (47-152AA)
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免疫原种属:Homo sapiens (Human)
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标记方式:Non-conjugated
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克隆类型:Polyclonal
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抗体亚型:IgG
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纯化方式:Antigen Affinity Purified
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浓度:It differs from different batches. Please contact us to confirm it.
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保存缓冲液:PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
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产品提供形式:Liquid
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应用范围:ELISA, IHC
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推荐稀释比:
Application Recommended Dilution IHC 1:20-1:200 -
Protocols:
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储存条件:Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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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.
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靶点详情
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功能:Transcription factor that positively regulates the determination of retinal ganglion cell fate and formation of the optic nerve and retino-hypothalamic tract. Required for retinal circadian rhythm photoentrainment.
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基因功能参考文献:
- In conclusion, we have identified a homozygous mutation in the ATOH7 gene in a patient with nonsyndromic congenital retinal nonattachment. PMID: 26933893
- We evaluated 21 consanguineous NCRNA pedigrees and identified the causal mutations in known retinal genes in 13 out of our 21 families. We found mutations in ATOH7 in three families. PMID: 28192794
- We discovered a novel SNP, rs56238729 (P = 1.22 x 10-13), in the ATOH7-PBLD region that is significantly associated with VCDR in Latino individuals. PMID: 28061514
- The genotype and allele frequencies of the polymorphism in ATOH7 did not show any statistically significant association with primary open angle glaucomacompared to controls. PMID: 27617586
- Familial linkage studies for primary angle-closure glaucoma have been performed and identified ATOH7 causative primary angle-closure glaucoma disease PMID: 26497787
- Single nucleotide polymorphism in ATOH7 gene is associated with primary open angle glaucoma. PMID: 25798827
- The significant association of three common variants in TMCO1, ATOH7, and CAV1 with primary open angle, primary angle closure, and pseudoexfoliation glaucoma was found in Pakistani cohorts. PMID: 25489222
- Mutations within the ATOH7 gene are not implicated in the pathogenesis of optic nerve hypoplasia in our patient cohort. PMID: 23802135
- This study finds that ATOH7 is associated with optic disc size but not independently with cup/disk ratio. PMID: 24457358
- a bHLH mutation in ATOH7 causes recessive persistent hyperplasia of the primary vitreous PMID: 22645276
- findings document Mendelian mutations within ATOH7 and imply a role for this molecule in the development of structures at the front as well as the back of the eye; study provides further insights into the function of ATOH7, especially its importance in retinal vascular development and hyaloid regression PMID: 22068589
- combination of ATOH7 and RFTN1 SNPs increased risk to POAG, indicating their diversified effects in the complex genetics of glaucoma. PMID: 22222511
- Report Math5 expression/function in retinal ganglion cells. PMID: 22019371
- ATOH7 is significantly associated with open-angle glaucoma. PMID: 21427129
- Polymorphisms of ATOH7, TGFBR3 and CARD10 influence the size of optic disc area. PMID: 21307088
- This study demonistrated that Deletion of a remote enhancer near ATOH7 disrupts retinal neurogenesis, causing NCRNA disease. PMID: 21441919
- Genome-wide association identifies ATOH7 as a major gene determining human optic disc size PMID: 20395239
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相关疾病:Persistent hyperplastic primary vitreous, autosomal recessive (PHPVAR)
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亚细胞定位:Nucleus.
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数据库链接:
HGNC: 13907
OMIM: 221900
KEGG: hsa:220202
STRING: 9606.ENSP00000362777
UniGene: Hs.175396
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