Gene: CHMP4B

Alternate names for this Gene: C20orf178|CHMP4A|CTPP3|CTRCT31|SNF7|SNF7-2|Shax1|VPS32B|Vps32-2|dJ553F4.4

Gene Summary: This gene encodes a member of the chromatin-modifying protein/charged multivesicular body protein (CHMP) protein family. The protein is part of the endosomal sorting complex required for transport (ESCRT) complex III (ESCRT-III), which functions in the sorting of endocytosed cell-surface receptors into multivesicular endosomes. The ESCRT machinery also functions in the final abscisson stage of cytokinesis and in the budding of enveloped viruses such as HIV-1. The three proteins of the CHMP4 subfamily interact with programmed cell death 6 interacting protein (PDCD6IP, also known as ALIX), which also functions in the ESCRT pathway. The CHMP4 proteins assemble into membrane-attached 5-nm filaments that form circular scaffolds and promote or stabilize outward budding. These polymers are proposed to help generate the luminal vesicles of multivesicular bodies. Mutations in this gene result in autosomal dominant posterior polar cataracts.

Gene is located in Chromosome: 20

Location in Chromosome : 20q11.22

Description of this Gene: charged multivesicular body protein 4B

Type of Gene: protein-coding

rs7274168 in CHMP4B gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs13043926 in CHMP4B gene and Protein C antigen measurement PMID 20802025 2010 Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.

rs13043926 in CHMP4B gene and Protein C measurement PMID 20802025 2010 Genome-wide association study identifies novel loci for plasma levels of protein C: the ARIC study.