CHMP3

Description

The CHMP3 (charged multivesicular body protein 3) is a protein-coding gene located on chromosome 2.

CHMP3 is a core component of the ESCRT-III complex, which plays a crucial role in the formation of multivesicular bodies (MVBs). MVBs are essential for the sorting and degradation of cellular components, including membrane proteins, through the lysosomal pathway. The ESCRT-III complex, which includes CHMP3, is involved in the invagination and scission of the endosomal membrane, leading to the formation of intraluminal vesicles (ILVs) within MVBs. These ILVs are then delivered to lysosomes for degradation. The ESCRT-III complex works in conjunction with other ESCRT complexes, including ESCRT-0, -I, and -II, in a sequential manner. CHMP3, along with other ESCRT-III components, disassembles from the invaginating membrane before the ILV is released. The ESCRT machinery is also involved in other membrane fission events, such as cytokinesis (cell division) and the budding of enveloped viruses. CHMP3 binds to specific phosphoinositides, including phosphatidylinositol 3,5-bisphosphate (PtdIns(3,5)P2) and PtdIns(3,4)P2, which are important for its function. Additionally, CHMP3 has been implicated in late stages of cytokinesis and the trafficking of the epidermal growth factor receptor (EGFR). A specific isoform of CHMP3 has been shown to protect yeast cells from stress-induced cell death and reactive oxygen species accumulation.

CHMP3 is also known as CGI-149, NEDF, VPS24.

Associated Diseases

WES Whole Exome Sequencing