CHMP4C

Description

The CHMP4C (charged multivesicular body protein 4C) is a protein-coding gene located on chromosome 8.

Charged multivesicular body protein 4c is a protein that in humans is encoded by the CHMP4C gene.

CHMP4C is a core component of the ESCRT-III complex, which plays a crucial role in the formation of multivesicular bodies (MVBs) and the sorting of endosomal cargo proteins into MVBs. MVBs contain intraluminal vesicles (ILVs) that are generated through invagination and scission from the limiting membrane of the endosome. These ILVs are primarily delivered to lysosomes, facilitating the degradation of membrane proteins, including stimulated growth factor receptors, lysosomal enzymes, and lipids. The MVB pathway relies on the sequential function of ESCRT-O, -I, -II, and -III complexes. ESCRT-III proteins typically detach from the invaginating membrane before the release of the ILV. The ESCRT machinery also participates in topologically similar membrane fission events, such as the terminal stages of cytokinesis and the budding of enveloped viruses like HIV-1 and other lentiviruses. CHMP4C is a key component of the cytokinesis checkpoint, which delays abscission to prevent premature resolution of intercellular chromosome bridges and accumulation of DNA damage. Upon phosphorylation by AURKB, CHMP4C, along with ZFYVE19/ANCHR, retains abscission-competent VPS4 (VPS4A and/or VPS4B) at the midbody ring until abscission checkpoint signaling concludes at late cytokinesis. Deactivation of AURKB leads to the dephosphorylation of CHMP4C, followed by its dissociation from ANCHR and VPS4, and subsequent abscission. ESCRT-III proteins are thought to mediate the essential vesicle extrusion and/or membrane fission activities, possibly in conjunction with the AAA ATPase VPS4. CHMP4C is implicated in HIV-1 p6- and p9-dependent virus release. CHMP4A/B/C are required for the exosomal release of SDCBP, CD63, and syndecan.

CHMP4C is also known as SNF7-3, Shax3, VPS32C.

Associated Diseases

WES Whole Exome Sequencing