2024年12月24日 · CTNNA1 (Catenin Alpha 1) is a Protein Coding gene. Diseases associated with CTNNA1 include Macular Dystrophy, Patterned, 2 and Diffuse Gastric And Lobular Breast Cancer Syndrome. Among its related pathways are Regulation of CDH11 Expression and Function and Cell junction organization.

Catenin alpha 1 (CTNNA1), encoding α-catenin, is involved in several physiological activities, such as adherens junction synthesis and signal transduction. Recent studies have suggested additional functions for CTNNA1 malignancies.

该基因编码连环蛋白家族的一个成员，该蛋白通过将位于质膜上的钙粘蛋白连接到细胞内的肌动蛋白丝，在细胞粘附过程中发挥重要作用。 编码的机械传感蛋白包含三个纽蛋白同源结构域，并响应细胞骨架张力而发生构象变化，从而导致钙粘蛋白-肌动蛋白丝连接的重构。 该基因的某些突变会导致蝴蝶状色素营养不良。 [RefSeq 提供，2016 年 5 月]

CTNNA1, encod … Hereditary Diffuse Gastric Cancer (HDGC) is a cancer predisposing syndrome mainly caused by germline inactivating variants in CDH1, encoding E-cadherin. Early-onset diffuse gastric cancer (DGC) and/or invasive lobular breast cancer (LBC) are the main phenotypes in CDH1-associated HDGC.

αE-catenin, also known as Catenin alpha-1 is a protein that in humans is encoded by the CTNNA1 gene. [5][6] αE-catenin is highly expressed in cardiac muscle and localizes to adherens junctions at intercalated disc structures where it functions to mediate the anchorage of actin filaments to the sarcolemma. αE-catenin also plays a role in tumor me...

本综述系统总结了CTNNA1在不同肿瘤中的不同功能，并简要描述了不同类型肿瘤中涉及的不同通路和机制。 CTNNA1在白血病和消化系统、泌尿生殖系统、乳腺癌等实体瘤中异常表达，与肿瘤的发生、发展和预后相关。 此外，本文还总结了与 CDH1、SETD2 和 hsa-miR-30d-5p/GJA1 类似的涉及 CTNNA1 的可能生理过程，例如甲基化、miRNA 干扰或调节轴。 CTNNA1 在大多数癌症中的确切机制仍不确定；因此，需要对 CTNNA1 进行额外的临床前研究，以用于潜在的早期肿 …

2023年3月17日 · This chapter focuses on CTNNA1, the second gene to be acknowledged as a hereditary diffuse gastric cancer (HDGC) predisposing gene. CTNNA1 loss of function was first found in a family meeting HDGC criteria in 2013. CTNNA1 loss of …

study identifies CTNNA1 gene variants as a cause of macular dystrophy, indicates that CTNNA1 is involved in maintaining RPE integrity; The results demonstrate a Fas-mediated apoptotic signaling pathway that is enhanced by the age-dependent loss …

Clinical resource with information about CTNNA1, Biological insights from 108 schizophrenia-associated genetic loci., Patterned macular dystrophy 2, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

2016年4月8日 · HGNC Approved Gene Symbol: CTNNA1. Cytogenetic location: 5q31.2 Genomic coordinates (GRCh38) : 5:138,753,425-138,935,034 (from NCBI) E-cadherin is a transmembrane glycoprotein responsible for physical connection of epithelial cells through Ca (2+)-binding regions in its extracellular domain.