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
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