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Exph5基因

WebSummary. Predicted to enable small GTPase binding activity. Predicted to be involved in keratinocyte development; multivesicular body sorting pathway; and positive regulation of secretion by cell. Predicted to be active in endosome. Orthologous to human EXPH5 (exophilin 5). [provided by Alliance of Genome Resources, Apr 2024] WebSlac2-b,也称为exophilin-5,是Rab27b效应蛋白,在外泌体运输中起作用,由EXPH5基因编码。我们先前描述了以常染色体隐性形式的大疱性表皮单纯疱疹的EXPH5中的双等位基因功能丧失突变。然而,尚不清楚Slac2-b表达的丧失如何导致皮肤脆弱和糜烂。

单纯性大疱性表皮松解症遗传吗,如何进行基因检测明确发病原因 - 怎样使用ncbi搜索并下载基因 …

WebExophilin 5, also known as EXPH5, is a human gene. Interactions. EXPH5 has been shown to interact with RAB27A. References WebOct 1, 2016 · Importance: Epidermolysis bullosa simplex (EBS) is a group of clinically and genetically diverse mechanobullous genodermatoses characterized by the fragility of skin and mucous membranes. Recently, mutations in EXPH5 encoding exophilin-5 (also known as Slac2-b, an effector protein involved in intracellular vesicle trafficking and exosome … is sirfetch\\u0027d good https://mrrscientific.com

人 Exophilin 5,EXPH5 GENLISA™ ELISA试剂盒 Human Exophilin 5, EXPH5 …

WebEXPH5: Exophilin 5: Protein Coding: 43: GC11M108505: 37.62: 2: POGLUT3: Protein O-Glucosyltransferase 3: Protein Coding: 40: GC11M108473: 7.42: 3: DDX10: DEAD-Box … WebMay act as Rab effector protein and play a role in vesicle trafficking. The protein encoded by this gene is a member of the synaptotagmin-like protein (Slp) family lacking a C2 domain. It contains an N-terminal synaptotagmin-like homology domain (SHD), and is a ras-related protein Rab-27B effector protein. This protein is thought to be involved in exosome … WebSeveral different genes have been implicated in the pathophysiology of inherited blistering skin diseases. Recently, autosomal recessive loss-of-function mutations in EXPH5 … if any have aught against you

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Exph5基因

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Webkrt5基因突变为本病的致病原因 ,也可由krt14和exph5基因突变引起 [4,5] 。本病例测序结果显示,先证者及其父亲携带krt5基因c.74c>t突变,与该病的高频突变位点一致 。

Exph5基因

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WebBioVector NTCC Inc. 订购电话TEL:400-800-2947 工作QQ/微信:1843439339 Email:[email protected] Web听哈佛大神讲怎么做单细胞转录组GSEA分析. 记得有一天,我正准备兴匆匆的给我的单细胞亚群间的差异基因跑个GO富集分析的时候,我的小老板迈着她那猥琐的步伐悄悄的跑到 …

WebGene summary (Entrez)i. Useful information about the gene from Entrez. The protein encoded by this gene is a member of the synaptotagmin-like protein (Slp) family lacking … WebExophilin 5, also known as EXPH5, is a human gene. Interactions. EXPH5 has been shown to interact with RAB27A. References ^ a b c GRCh38: Ensembl release 89: ENSG00000110723 - Ensembl, May 2024 ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000034584 - Ensembl, May 2024 ^ "Human PubMed Reference:".

Web摘要: 目的 本研究有助于了解EXP基因家族的基本特征,为深入研究其功能搭建平台。 方法 本研究对从巨桉(Eucalyptus grandis Hill)中筛选出35个EXP基因家族成 … Web基因名. Exph5. 基因曾用名. Slac2b, slac2-b, Kiaa0624, E030050P12, B130009M24Rik, AC079869.22gm5.

WebAntibodies that detect EXPH5 can be used in several scientific applications, including Western Blot and Immunohistochemistry. These antibodies target EXPH5 in Human …

Web遗传病、罕见病基因检测导读:大疱性表皮松解症(eb)基因检测是对一种罕见的遗传病所进行的基因测序分析,并对发现的基因突变进行致病性确定。大疱性表皮松解症临床表现差异很大,难以建立起基因型和表型之间的清晰的关系。 is siren head ticklishWebJan 22, 2013 · McGrath et al. (2012) studied an Iraqi family in which 3 of 8 sibs born to first-cousin parents had inherited skin fragility and mutation in the EXPH5 gene. The clinical features were apparent from early childhood and consisted primarily of trauma-induced scale crusts and intermittent skin blistering that was mostly secondary to trauma, such as … if any have ought against his brotherWebAntibodies that detect EXPH5 can be used in several scientific applications, including Western Blot and Immunohistochemistry. These antibodies target EXPH5 in Human samples. Our EXPH5 polyclonal antibodies are developed in Rabbit. Find the EXPH5 antibody that fits your needs. Choose from 1 of 3 EXPH5 antibodies, which have been … if any helpWebApr 2, 2024 · In the present study, using newly developed exophilin-5–knockout ( Exph5 -KO) mice and mouse models of asthma, we uncovered a role of exophilin-5 as a regulator of IL-33 signaling in antigen-induced allergic immune responses. Results. Lack of exophilin-5 exacerbates OVA-induced allergic inflammation. if any grammarWeb1.4 EXPH5 多个病例报道证实EXPH5基因纯合突变导致皮肤脆性增加和大疱形成[13]。EXPH5编码的Exophilin-5蛋白参与细胞内蛋白运输和外泌体分泌,在细胞内囊泡转运中起重要作用[14]。 1.5 JUP EBS的致病基因中,有许多罕见的常染色体隐性遗传基因,JUP就是其 … if any has or haveWeb基因标记细胞类型举例 骨髓造血干细胞 人类同源基因 EXPH5 人类同源基因关联疾病 表皮松解症 品系描述 在Exph5基因目的exons两侧分别插入loxP位点。该flox小鼠可与组织特异 … is sir fluff a girlhttp://www.lykxyj.com/cn/article/doi/10.13275/j.cnki.lykxyj.2024.06.006 iss ireland jobs