PLEC Gene - GeneCards | PLEC Protein | PLEC Antibody
2024年12月25日 · PLEC (Plectin) is a Protein Coding gene. Diseases associated with PLEC include Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy and Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia. Among its related …
凝集素（PLEC）基因 | MCE
凝集素： Plectin 是一个重要的结构和部分功能相关蛋白质家族的重要成员，称为 plakins 或 cytolinkers，能够连接细胞骨架的不同元素。具有多域结构和巨大尺寸的 Plakins 不仅在维持 …
PLEC gene - MedlinePlus
The PLEC gene provides instructions for making plectin, a protein that helps attach the skin layers and supports the muscle cells. Mutations in the gene can cause different forms of epidermolysis bullosa, a skin blistering condition, and …
PLEC plectin - NIH Genetic Testing Registry (GTR) - NCBI
2025年1月4日 · Clinical resource with information about PLEC, Autosomal recessive limb-girdle muscular dystrophy type 2Q, Biological, clinical and population relevance of 95 loci for blood …
Expanding the Clinical Phenotype of PLECTIN-Related …
Plectinopathy-associated disorders are caused by mutations in the PLECTIN (PLEC) gene encoding Plectin protein. PLEC mutations cause a spectrum of diseases defined by varying …
Mutation Update: The Spectra of PLEC Sequence …
This mutation update analyzes the clinical spectrum of PLEC in our cohort and in the literature and demonstrates the relationship between PLEC genotype and phenotypic manifestations. This study has integrated our seven novel PLEC …
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PLEC人源基因|PLEC基因突变_致病性_靶点-RDDC官网
PLEC是一种参与细胞骨架结构和功能的蛋白质家族，位于人类染色体8和小鼠染色体15上。本网页提供了PLEC的基因结构、转录本、蛋白质、突变、相互作用、靶点药物和文献报道等信息， …
Mutation update: The spectra of PLEC sequence variants and …
Plectin, encoded by PLEC, is a cytoskeletal linker of intermediate filaments expressed in many cell types. Plectin consists of three main domains that determine its functionality: the N …
Plectin, a novel regulator in migration, invasion and adhesion of ...
2025年2月6日 · Plectin (PLEC), a 500 kDa scaffolding protein, has gained prominence in recent years due to its pivotal role in various cellular biological functions such as cell morphology, …
普列克底物蛋白 - 维基百科，自由的百科全书
其命名中“plec”来源于血小板及白细胞C激酶底物（platelet and leukocyte C kinase substrate），“kstr”来自于氨基酸序列KSTR（赖氨酸-丝氨酸-苏氨酸-精氨酸）。