Aliases for UNC45B Gene
External Ids for UNC45B Gene
Previous HGNC Symbols for UNC45B Gene
Previous GeneCards Identifiers for UNC45B Gene
This gene encodes a co-chaperone required for folding and accumulation of type II myosins. The protein consists of three tetratricopeptide repeat motifs at the N-terminus that form a complex with heat shock protein 90, a central region of unknown function that is conserved in all Unc-45 proteins, and a C-terminal Unc-45/Cro1/She4 domain. The protein is expressed at high levels in striated muscle, where its muscle myosin chaperone activity is dependent on heat shock protein 90 acting as a co-chaperone. A missense mutation in this gene has been associated with cataract development. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
GeneCards Summary for UNC45B Gene
UNC45B (Unc-45 Myosin Chaperone B) is a Protein Coding gene. Diseases associated with UNC45B include Cataract 43 and Early-Onset Posterior Subcapsular Cataract. GO annotations related to this gene include binding and Hsp90 protein binding. An important paralog of this gene is TTC1.
UniProtKB/Swiss-Prot for UNC45B Gene
Acts as a co-chaperone for HSP90 and is required for proper folding of the myosin motor domain. Plays a role in sarcomere formation during muscle cell development. Is necessary for normal early lens development.