ASXL1 : ASXL transcriptional regulator 1

Description

The ASXL1 (ASXL transcriptional regulator 1) is a protein-coding gene located on chromosome 20.

The ASXL1 gene provides instructions for making a protein that is involved in chromatin remodeling, a process that alters how tightly DNA is packaged. This protein regulates the expression of many genes, including HOX genes, which are important for development. ASXL1 can activate or repress HOX genes depending on when they are needed. It may also play a role in gene regulation by signaling for methylation of promoter regions, controlling gene activity.

ASXL1, also known as Additional sex combs-like protein 1, is a probable Polycomb group (PcG) protein involved in transcriptional regulation mediated by ligand-bound nuclear hormone receptors like retinoic acid receptors (RARs) and peroxisome proliferator-activated receptor gamma (PPARG). It acts as a coactivator of RARA and RXRA through association with NCOA1 and functions as a corepressor for PPARG, suppressing its adipocyte differentiation-inducing activity. ASXL1 is a non-catalytic component of the PR-DUB complex, which specifically mediates deubiquitination of histone H2A monoubiquitinated at 'Lys-119' (H2AK119ub1). It serves as a sensor of N(6)-methyladenosine methylation on DNA (m6A), recognizing and binding m6A DNA, leading to its ubiquitination and degradation by TRIP12, thereby inactivating the PR-DUB complex and regulating Polycomb silencing.

ASXL1 is also known as BOPS, MDS.

Associated Diseases

WES Whole Exome Sequencing

Clinical Exome Sequencing