Aliases for IFT43 Gene
External Ids for IFT43 Gene
Previous HGNC Symbols for IFT43 Gene
Previous GeneCards Identifiers for IFT43 Gene
This gene encodes a subunit of the intraflagellar transport complex A (IFT-A). IFT-A is a multiprotein complex that plays an important role in cilia assembly and maintenance by mediating retrograde ciliary transport. Mutations in this gene are a cause of cranioectodermal dysplasia-3 (CED3), also known as Sensenbrenner syndrome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
GeneCards Summary for IFT43 Gene
IFT43 (Intraflagellar Transport 43) is a Protein Coding gene. Diseases associated with IFT43 include cranioectodermal dysplasia 3 and cranioectodermal dysplasia 1. Among its related pathways are Organelle biogenesis and maintenance and Intraflagellar transport.
UniProtKB/Swiss-Prot for IFT43 Gene
Component of IFT complex A (IFT-A) involved in retrograde ciliary transport along microtubules from the ciliary tip to the base.