ASXL3

ASXL3 is a gene that in humans is located on the X chromosome and provides instructions for making a protein that is involved in the development and function of cells. Mutations in the ASXL3 gene have been associated with asphyxiating thoracic dystrophy, a rare genetic disorder characterized by a narrowed chest cavity and can lead to breathing difficulties and death.

The ASXL3 gene is a member of the additional sex combs-like (ASCOM) protein family, which are group of genes that are involved in chromatin modification and the regulation of developmental processes. The protein produced by the ASXL3 gene is thought to play a role in the formation of heterochromatin, which is a compact and highly heterochromatic form of chromatin that is repressed in gene expression.

Mutations in the ASXL3 gene have been identified in individuals with asphyxiating thoracic dystrophy, a condition characterized by the stunted growth of the chest and lungs, leading to respiratory failure and death in early childhood. The mutations are typically loss-of-function mutations, meaning they disrupt the ability of the protein to perform its normal function.

The ASXL3 gene is also subject to X-chromosome inactivation, a process by which one copy of the gene is randomly inactivated in females. This inactivation can lead to a mosaic of cells with a mixture of normal and mutated cells. Understanding the role of ASXL3 in the development of asphyxiating thoracic dystrophy is ongoing, and additional research is needed to understand the underlying mechanisms and to identify potential treatment approaches.