AUTS2

Description

The AUTS2 (activator of transcription and developmental regulator AUTS2) is a protein-coding gene located on chromosome 7.

AUTS2, short for Autism Susceptibility Gene 2, is a protein involved in human development. It plays a critical role in neurodevelopment and is associated with various neurological disorders, including autism spectrum disorders, intellectual disability, and developmental delay. Mutations in the AUTS2 gene have also been linked to non-neurological conditions like certain cancers and skin aging.

The AUTS2 protein is part of a complex called PRC1-like, which regulates gene expression by modifying chromatin. This complex normally represses gene activity by attaching a small molecule (ubiquitin) to histone H2A. However, in the presence of AUTS2, the complex becomes less efficient at this modification due to phosphorylation of another protein (RNF2) by CSNK2B. This shift in activity leads to increased gene expression. AUTS2 also plays a role in brain development by promoting the growth of axons and dendrites (the extensions of neurons) and aiding in the movement of neurons to their correct location during embryonic development. These processes are facilitated by AUTS2's interaction with proteins that regulate the organization of the cytoskeleton, which is the structural framework of cells.

AUTS2 is also known as FBRSL2, MRD26.

Associated Diseases

• Intellectual developmental disorder, autosomal dominant 26
• Autism spectrum disorder due to AUTS2 deficiency