2024年12月24日 · DCTN1 (Dynactin Subunit 1) is a Protein Coding gene. Diseases associated with DCTN1 include Perry Syndrome and Amyotrophic Lateral Sclerosis 1. Among its related pathways are Loss of proteins required for interphase microtubule organization from the centrosome and Transport to the Golgi and subsequent modification.

Dynactin subunit 1 is a protein that in humans is encoded by the DCTN1 gene. [5] This gene encodes the largest subunit of dynactin, a macromolecular complex consisting of 23 subunits (11 individual proteins ranging in size from 22 to 150 kD). [6] . Dynactin binds to cytoplasmic dynein, dynein cargo adaptors, and microtubules. [7] .

2010年9月30日 · The spectrum of DCTN1-related neurodegeneration includes Perry syndrome, distal hereditary motor neuronopathy type 7B (dHMN7B), frontotemporal dementia (FTD), motor neuron disease / amyotrophic lateral sclerosis (ALS), and progressive supranuclear palsy.

该基因编码 dynactin 的最大亚基，dynactin 是一种大分子复合物，由 10 个亚基组成，大小从 22 到 150 kD 不等。 Dynactin 与微管和细胞质动力蛋白结合。 Dynactin 参与多种细胞功能，包括内质网到高尔基体的转运、溶酶体和核内体的向心运动、纺锤体形成、染色体运动、核定位和轴突发生。 该亚基通过其直接结合动力蛋白的结构域与动力蛋白中间链相互作用，并通过其 N 末端高度保守的富含甘氨酸的细胞骨架相关蛋白 (CAP-Gly) 结构域与微管结合。 该基因的可变剪接导 …

2025年1月4日 · Clinical resource with information about DCTN1, Amyotrophic lateral sclerosis type 1, Neuronopathy, distal hereditary motor, type 7B, Perry syndrome, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

2025年1月4日 · Autophagy and Ubiquitin-Proteasome System Coordinate to Regulate the Protein Quality Control of Neurodegenerative Disease-Associated DCTN1. Wang N, et al. Neurotox Res, 2020 Jan. PMID 31654383. Dynactin affects extension and assembly of adherens junctions in Drosophila photoreceptor development. Fan SS. J Biomed Sci, 2004 May-Jun. PMID 15067220.

Perry syndrome (PS) is a rare hereditary neurodegenerative disease characterized by autosomal dominant parkinsonism, psychiatric symptoms, weight loss, central hypoventilation, and distinct TDP-43 pathology. The mutated causative gene for PS is DCTN1, which encodes the dynactin subunit p150 Glued.

HGNC Approved Gene Symbol: DCTN1. The DCTN1 gene encodes p150 (Glued), the largest polypeptide of the dynactin complex, which binds directly to microtubules and to cytoplasmic dynein (DYNC1H1; 600112), a microtubule-based biologic motor protein (Holzbaur and …

Researchers have identified at least one DCTN1 gene mutation that causes a nervous system disorder called distal hereditary motor neuronopathy type VIIB. Signs and symptoms of this disorder first appear in early adulthood and include breathing difficulties and progressive weakness of muscles in the face and hands.

2021年4月13日 · Biochemical analysis using a panel of truncated mutants revealed that the DCTN1 CAP-Gly-basic supradomain, dynactin domain, and C-terminal region interacted with TDP-43, preferentially through its C-terminal region. Remarkably, the p.G71A mutation affected the TDP-43-interacting ability of DCTN1.