IFT140 Antibody, HRP conjugated
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中文名稱：IFT140兔多克隆抗體, HRP偶聯(lián)
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貨號：CSB-PA842756LB01HU
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規(guī)格：￥880
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其他：
產品詳情
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產品名稱：Rabbit anti-Homo sapiens (Human) IFT140 Polyclonal antibody
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Uniprot No.：
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基因名：IFT140
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別名：IFT140 antibody; KIAA0590 antibody; WDTC2 antibody; Intraflagellar transport protein 140 homolog antibody; WD and tetratricopeptide repeats protein 2 antibody
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宿主：Rabbit
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反應種屬：Human
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免疫原：Recombinant Human Intraflagellar transport protein 140 homolog protein (1291-1462AA)
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免疫原種屬：Homo sapiens (Human)
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標記方式：HRP
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克隆類型：Polyclonal
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抗體亞型：IgG
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純化方式：>95%, Protein G purified
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濃度：It differs from different batches. Please contact us to confirm it.
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保存緩沖液：Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4 -
產品提供形式：Liquid
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應用范圍：ELISA
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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.
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用途：For Research Use Only. Not for use in diagnostic or therapeutic procedures.
產品評價
相關產品
靶點詳情
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功能：Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs). Plays a pivotal role in proper development and function of ciliated cells through its role in ciliogenesis and/or cilium maintenance. Required for the development and maintenance of the outer segments of rod and cone photoreceptor cells. Plays a role in maintenance and the delivery of opsin to the outer segment of photoreceptor cells.
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基因功能參考文獻：
- A maternally inherited homozygous biallelic mutation altering the exon 6 splice donor site in IFT140 gene causes Mainzer-Saldino syndrome. PMID: 28724397
- We provide the first description of an Opitz trigonocephaly C syndrome (OTCS) phenotype that appears to result from IFT140 mutations. The presentation of this patient is consistent with previous reports showing that OTCS already exhibited skeleletal and nonskeletal features of a ciliopathy PMID: 27874174
- Recessive IFT140 mutations cause a severe congenital retinal dystrophy with high hyperopia and often early photophilia. Developmental delay is common but not universal and not all patients have obvious extraocular findings. PMID: 26359340
- This study highlights the phenotype of nonsyndromic RP due to mutations in IFT140 with milder retinal dystrophy than that associated with the syndromic disease. PMID: 26968735
- Identification of IFT140 variants in multiple unrelated non-syndromic Leber congenital amaurosis and retinitis pigmentosa. PMID: 26216056
- Genetic analysis revealed both to harbor recessive mutations in IFT140, a cilium gene recently associated with the skeletal ciliopathy conorenal syndrome. PMID: 24698627
- present study strengthens the rationale for IFT140 screening in skeletal ciliopathy spectrum patients that have kidney disease and/or retinal dystrophy PMID: 23418020
- IFT140 mutations were identified in Mainzer-Saldino syndrome. IFT140 plays a role in proper development and function of ciliated cells. PMID: 22503633
- loss of Ift140 causes pronounced renal cystic disease and suggest that abnormalities in several different pathways may influence cyst progression. PMID: 22282595
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相關疾病：Short-rib thoracic dysplasia 9 with or without polydactyly (SRTD9)
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亞細胞定位：Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell projection, cilium.
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