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GenoLensGenoLens

UNC45B

Chr 17q12

unc-45 myosin chaperone B

Aliases:
UNC45
MANE:
ENST00000394570.7

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Congenital myopathy

    BIALLELIC, autosomal or pseudoautosomal
  • DDG2P

    BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

  • myofibrillar myopathy 11

    0.71
  • cataract 43

    0.55
  • cataract

    0.37
  • early-onset nuclear cataract

    0.37
  • myopathy

    0.33
  • dilated cardiomyopathy 1A

    0.32
  • hereditary disease

    0.19
  • kidney disorder

    0.16
  • oral cavity neoplasm

    0.06
  • neoplasm

    0.04

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Protein unc-45 homolog B

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

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.