The chmp7 gene encodes a charged multivesicular body protein 7, which is a core component of the endosomal sorting complex required for transport-iii (ESCRT-III). This cytoplasmic protein localizes to ...[+]

The chmp7 gene encodes a charged multivesicular body protein 7, which is a core component of the endosomal sorting complex required for transport-iii (ESCRT-III). This cytoplasmic protein localizes to late endosomes and is recruited to the midbody ring during cytokinesis to facilitate abscission. It functions in membrane remodeling processes, including the closure of the nuclear envelope and the topologically similar process of cytokinesis. Expression is observed during embryonic development from gastrula through neurula stages, with transcripts detected in structures including the notochord and neural tube. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD