UNC45B Chromosome 17

Unc-45 myosin chaperone B
10 variants 10 Health Risk

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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
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
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