Transcriptional regulator ATRX also known as ATP-dependent helicase ATRX, X-linked helicase II, or X-linked nuclear protein (XNP) is a protein that in humans is encoded by the ATRX gene. [5][6][7] Transcriptional regulator ATRX contains an ATPase / helicase domain, and thus it belongs to the SWI/SNF family of chromatin remodeling proteins.

2024年12月24日 · ATRX (ATRX Chromatin Remodeler) is a Protein Coding gene. Diseases associated with ATRX include Alpha-Thalassemia Myelodysplasia Syndrome and Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1. Among its related pathways are Alternative Lengthening of Telomeres (ALT) and Chromosome Maintenance.

The ATRX gene provides instructions for making a protein that plays an essential role in normal development. Although the specific function of the ATRX protein is unknown, studies suggest that it helps regulate the activity (expression) of other genes through a …

2023年6月1日 · ATRX is a central player regulating the DNA damage response and prevents chromosomal instability. ATRX limits the formation of secondary structures that can trigger replication fork stalling and replication stress. Furthermore, ATRX regulates DNA repair via homologous recombination.

Alpha-thalassemia x-linked intellectual disability (ATRX) syndrome is a genetic condition that causes intellectual disability, muscle weakness (hypotonia), short height, a particular facial appearance, genital abnormalities, and possibly other symptoms.

2023年3月7日 · ATRX (alpha-thalassemia mental retardation X-linked) is one of the most frequently mutated tumor suppressor genes in human cancers, especially in glioma, and recent findings indicate roles for ATRX in key molecular pathways, such as the regulation of chromatin state, gene expression, and DNA damage repair, placing ATRX as a central player in ...

2021年6月23日 · ATRX is a tumor suppressor that has been associated with protection from DNA replication stress, purportedly through resolution of difficult-to-replicate G-quadruplex (G4) DNA structures.

ATRX (alpha-thalassemia mental retardation X-linked) is one of the most frequently mutated tumor suppressor genes in human cancers, especially in glioma, and recent findings indicate roles for ATRX in key molecular pathways, such as the regulation of chromatin state, gene expression, and DNA damage …

2024年10月16日 · The transcriptional regulator ATRX, a genetic factor, is associated with a range of disabilities, including intellectual, hematopoietic, skeletal, facial, and urogenital disabilities. ATRX mutations substantially contribute to the pathogenesis of ATRX syndrome and are frequently detected in gliomas …

ATRX is a molecular motor (Chromatin Remodeler, a Protein Coding gene) which helps maintain the chromatin by replacing histones when these are lost.