Unc-45 Myosin Chaperone B

Alternative Names

  • UNC45B
  • Unc-45, C. Elegans, Homolog of, B
  • SMUNC45

Associated Diseases

Myofibrillar Myopathy 11
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OMIM Number

611220

NCBI Gene ID

146862

Length

41,553 bases

No. of Exons

20

No. of isoforms

3

Protein Name

Protein unc-45 homolog B

Molecular Mass

103,733Da

Amino Acid Count

931

Genomic Location

chr17:35,147,793-35,189,345

Gene Map Locus
17q12

Description

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_173167.3:c.2261G>A Lebanonchr17:35177610PathogenicLikely PathogenicMyofibrillar Myopathy 11NG_042129.1:g.34794G>A; NM_173167.3:c.2261G>A ; NP_775259.1:p.Arg754Gln139715157834072
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