Disease-gene associations mined from literature

Literature associating HSPB11 and asphyxiating thoracic dystrophy 3

HSPB11 [ENSP00000194214]

Heat shock protein family B (small), member 11; Component of the IFT complex B required for sonic hedgehog/SHH signaling. May mediate transport of SHH components: required for the export of SMO and PTCH1 receptors out of the cilium and the accumulation of GLI2 at the ciliary tip in response to activation of the SHH pathway, suggesting it is involved in the dynamic transport of SHH signaling molecules within the cilium. Not required for ciliary assembly (By similarity); Intraflagellar transport proteins

Synonyms:  HSPB11,  HSPB11p,  hHSPB11,  A6NG08,  A6NIR2 ...

Linkouts:  STRING  Pharos  UniProt