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 Short-Rib Thoracic Dysplasia 18 With Polydactyly and Cranioectodermal Dysplasia 3. Among its related pathways are Intraflagellar transport and Organelle biogenesis and maintenance.
UniProtKB/Swiss-Prot Summary for IFT43 Gene
As a component of IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is involved in ciliogenesis (PubMed:28400947, PubMed:28973684). Involved in retrograde ciliary transport along microtubules from the ciliary tip to the base (PubMed:21378380).