UNC45B unc-45 myosin chaperone B
Gene ID: 146862, updated on 2-Nov-2024Gene type: protein coding
Also known as: CMYA4; MFM11; UNC45; CTRCT43; SMUNC45; UNC-45B
- See all available tests in GTR for this gene
- Go to complete Gene record for UNC45B
- Go to Variation Viewer for UNC45B variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Cataract 43 | See labs |
| Myofibrillar myopathy 11 | See labs |
Genomic context
- Location:
- 17q12
- Sequence:
- Chromosome: 17; NC_000017.11 (35147817..35189345)
- Total number of exons:
- 20
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for UNC45B variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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