Myosin-Vb, a myosin V type protein, is encoded by the MYO5B gene in humans. [5][6][7][8] Recent evidence suggests that Myosin-Vb is related to the creation of memories [9] by actin -dependent trafficking of AMPA receptor containing recycling endosomes in dendritic spines. [10]

2024年12月25日 · MYO5B (Myosin VB) is a Protein Coding gene. Diseases associated with MYO5B include Cholestasis, Progressive Familial Intrahepatic, 10 and Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis. Among its related pathways are Aquaporin-mediated transport and wtCFTR and delta508-CFTR traffic / Generic schema (norm and CF).

The MYO5B gene provides instructions for making a protein called myosin Vb. This protein is one of a group of proteins with similar structures called myosins, which are involved in cell movement and the transport of materials within and between cells. Learn about this …

MYO5B是一个位于人类18号染色体上的基因，编码一种隶属肌凝蛋白 超家族的非典型的肌凝蛋白肌凝蛋白-Vb（ Myosin-Ia ） [6] [7] [8] [9] 。 MYO5B 基因的突变会导致细胞极性的异常，进而造成 微绒毛包涵体病 （ 英语 ： microvillous inclusion disease ） [ 9 ] 。

This gene has 12 transcripts (splice variants), 229 orthologues, 43 paralogues and is associated with 6 phenotypes. Broad expression in small intestine (RPKM 15.1), duodenum (RPKM 14.8) and 18 other tissues. 由该基因编码的蛋白质与其他蛋白质一起可能参与质膜循环。 该基因的突变与微绒毛包涵体病有关。 [RefSeq 提供，2009 年 9 月]

2021年12月2日 · 近期我院感染传染科肝病研究团队王建设教授课题组于世界著名老牌肝脏病杂志《Liver International》发表题为《MYO5B-associated diseases: novel liver-related variants and genotype-phenotype correlation》的研究论著。

Myosin Vb (MYO5B) is a motor protein that facilitates protein trafficking and recycling in polarized cells by RAB11- and RAB8-dependent mechanisms. Biallelic MYO5B mutations are identified in the majority of patients with microvillus inclusion disease (MVID).

Nonsense, frameshift, canonical splice sites, initiation codon loss, and single exon or multiexon deletion were defined as null MYO5B variants. Results: Phenotypically, 50 were isolated MVID, 47 involved both liver and intestine (combined), and 33 were isolated FIC (9 persistent, 15 recurrent, 3 transient, and 6 un-sub-classified) patients.

MYO5B is an actin filament-based motor protein that binds select GTPase RAB proteins, including RAB8 (RAB8A; 165040) and RAB11A (605520), and has been implicated in apical plasma membrane protein trafficking (summary by Overeem et al., 2020). For further background information on myosins, see MYO1A (601478).

Title: MYO5B Gene Mutations: A Not Negligible Cause of Intrahepatic Cholestasis of Infancy With Normal Gamma-Glutamyl Transferase Phenotype. Myo5b Transports Fibronectin-Containing Vesicles and Facilitates FN1 Secretion from Human Pleural Mesothelial Cells.