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.

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.

CTNNA1, encoding for α-E-catenin, and E-cadherin-partner in the adherens junction complex, has been recently classified as a HDGC predisposing gene. Nevertheless, little is known about CTNNA1 tumor spectrum in variant carriers and variant-type associated causality.

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...

The CTNNA1 gene is associated with autosomal dominant CTNNA1-related diffuse gastric cancer (PMID: 34425242) and autosomal dominant butterfly-shaped pigmentary macular dystrophy (MedGen UID: 332348).

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.

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 …

2024年11月27日 · Title: Cancer predisposition and germline CTNNA1 variants. Suppression of alpha-catenin and adherens junctions enhances epithelial cell proliferation and motility via TACE-mediated TGF-alpha autocrine/paracrine signaling.

In 2017, we implemented CTNNA1 germline analysis in probands suspected of having hereditary diffuse gastric cancer. Here, we report the results from a retrospective series of 41 cases, including the identification of a new family with a CTNNA1 mutation and the first prophylactic total gastrectomy in …

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 …