Aliases for HSPB11 Gene
External Ids for HSPB11 Gene
Previous HGNC Symbols for HSPB11 Gene
Previous GeneCards Identifiers for HSPB11 Gene
GeneCards Summary for HSPB11 Gene
HSPB11 (Heat Shock Protein Family B (Small) Member 11) is a Protein Coding gene. Diseases associated with HSPB11 include Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly and Bardet-Biedl Syndrome 19. Among its related pathways are Organelle biogenesis and maintenance and Intraflagellar transport.
UniProtKB/Swiss-Prot Summary for HSPB11 Gene
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. Its role in intraflagellar transport is mainly seen in tissues rich in ciliated cells such as kidney and testis. Essential for male fertility, spermiogenesis and sperm flagella formation. Plays a role in the early development of the kidney. May be involved in the regulation of ureteric bud initiation (By similarity).