CHMP1A

Ideogram human chromosome 16

CHMP1A

CHMP1A is a protein-coding gene that plays a crucial role in the endosomal sorting complex required for transport (ESCRT) pathway. This gene encodes a subunit of the ESCRT-III complex, which is involved in the sorting and trafficking of proteins within the cell.

Function

The CHMP1A protein is a component of the ESCRT-III complex, which is responsible for the final stages of multivesicular body (MVB) formation and the sorting of ubiquitinated proteins for degradation in the lysosome. It is also involved in cytokinesis and the abscission stage of cell division.

Structure

The CHMP1A gene is located on chromosome 16 in humans and consists of several exons that encode a protein with a coiled-coil domain and a C-terminal MIT (microtubule interacting and trafficking) domain. These domains are essential for protein-protein interactions within the ESCRT machinery.

Clinical Significance

Mutations in the CHMP1A gene have been associated with neurodevelopmental disorders such as autism spectrum disorder and intellectual disability. Dysregulation of the ESCRT pathway can lead to impaired protein degradation and abnormal cellular processes.

Interactions

CHMP1A interacts with other ESCRT proteins such as CHMP1B, VPS4, and ALIX to facilitate membrane remodeling and vesicle formation. These interactions are crucial for the proper functioning of the ESCRT machinery in various cellular processes.