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.

Dec 24, 2024 · 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.

Jan 1, 2023 · 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.

Diagnostic testing of this gene is recommended to identify a potential genetic basis for a condition. This type of testing can inform prognosis and clinical care for a symptomatic patient or be used to screen unaffected patients (including family members) for increased genetic risk for the condition.

αE-catenin, also known as Catenin alpha-1 is a protein that in humans is encoded by the CTNNA1 gene.

Mar 17, 2023 · 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 …

Apr 8, 2016 · 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 …

Feb 13, 2020 · Herein, we provide the first large-scale report of CTNNA1 sequencing findings on MGPT through a commercial lab. The data reveal multiple new CTNNA1 LOF variants, including a new truncating...