CHMP4A

Ideogram human chromosome 14

CHMP4A

CHMP4A is a protein-coding gene that plays a crucial role in the endosomal sorting complex required for transport (ESCRT) pathway. This gene is also known as chromatin-modifying protein 4A and is located on chromosome 9 in humans.

Function

The CHMP4A gene encodes a protein that is a component of the ESCRT-III complex, which is involved in the sorting and trafficking of ubiquitinated proteins for degradation in the lysosome. Specifically, CHMP4A is involved in the final stages of multivesicular body (MVB) formation and the abscission stage of cytokinesis.

Structure

The CHMP4A protein consists of several domains, including an N-terminal MIT domain, a coiled-coil region, and a C-terminal acidic region. These domains are essential for its interactions with other ESCRT proteins and for its function in membrane remodeling processes.

Role in Disease

Mutations in the CHMP4A gene have been associated with various diseases, including neurodegenerative disorders and cancer. Dysregulation of the ESCRT pathway, in which CHMP4A plays a critical role, can lead to the accumulation of toxic protein aggregates and impaired cell division, contributing to disease pathogenesis.

Interactions

CHMP4A interacts with several other ESCRT proteins, such as CHMP4B, CHMP4C, and VPS4. These interactions are essential for the proper assembly and function of the ESCRT-III complex during membrane remodeling processes.