Aliases for MVB12B Gene
External Ids for MVB12B Gene
Previous HGNC Symbols for MVB12B Gene
Previous GeneCards Identifiers for MVB12B Gene
The protein encoded by this gene is a component of the ESCRT-I complex, a heterotetramer, which mediates the sorting of ubiquitinated cargo protein from the plasma membrane to the endosomal vesicle. ESCRT-I complex plays an essential role in HIV budding and endosomal protein sorting. Depletion and overexpression of this and related protein (MVB12A) inhibit HIV-1 infectivity and induce unusual viral assembly defects, indicating a role for MVB12 subunits in regulating ESCRT-mediated virus budding. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
GeneCards Summary for MVB12B Gene
MVB12B (Multivesicular Body Subunit 12B) is a Protein Coding gene. Diseases associated with MVB12B include Glaucoma 1, Open Angle, E. Among its related pathways are Endocytosis. GO annotations related to this gene include lipid binding and ubiquitin binding. An important paralog of this gene is MVB12A.
UniProtKB/Swiss-Prot for MVB12B Gene
Component of the ESCRT-I complex, a regulator of vesicular trafficking process. Required for the sorting of endocytic ubiquitinated cargos into multivesicular bodies.