UNC45B Chromosome 17
Unc-45 myosin chaperone B
Upload your DNA to see your personal genotypes for variants in UNC45B.
What This Gene Does
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]
Gene Info
Gene Group
Armadillo like helical domain containing
Locus Type
gene with protein product
Location
17q12
Ensembl
ENSG00000141161
Associated Conditions (5)
UNC45B-related disorder
Inborn genetic diseases
Myofibrillar myopathy 11
Myopathy
Cataract 43
Key Variants
RS142883160
Conflicting classifications of pathogenicity
UNC45B-related disorder, UNC45B-related disorder
Health Risk
RS144969600
Conflicting classifications of pathogenicity
UNC45B-related disorder, Inborn genetic diseases, UNC45B-related disorder
Health Risk
RS148389773
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS577155361
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS77740352
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS199583516
Likely pathogenic
Myofibrillar myopathy 11, Myofibrillar myopathy 11
Health Risk
RS2092244236
Likely pathogenic
Myofibrillar myopathy 11, Myofibrillar myopathy 11
Health Risk
RS139715157
Pathogenic
Myopathy, Myofibrillar myopathy 11, UNC45B-related disorder
Health Risk
RS370424081
Pathogenic
Cataract 43, Cataract 43
Health Risk
RS775340790
Pathogenic
Myofibrillar myopathy 11, Myofibrillar myopathy 11
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142883160 | Health Risk | Conflicting classifications of pathogenicity | UNC45B-related disorder, UNC45B-related disorder |
| RS144969600 | Health Risk | Conflicting classifications of pathogenicity | UNC45B-related disorder, Inborn genetic diseases, UNC45B-related disorder |
| RS148389773 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS577155361 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS77740352 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS199583516 | Health Risk | Likely pathogenic | Myofibrillar myopathy 11, Myofibrillar myopathy 11 |
| RS2092244236 | Health Risk | Likely pathogenic | Myofibrillar myopathy 11, Myofibrillar myopathy 11 |
| RS139715157 | Health Risk | Pathogenic | Myopathy, Myofibrillar myopathy 11, UNC45B-related disorder |
| RS370424081 | Health Risk | Pathogenic | Cataract 43, Cataract 43 |
| RS775340790 | Health Risk | Pathogenic | Myofibrillar myopathy 11, Myofibrillar myopathy 11 |