IFT43

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]

Description

intraflagellar transport 43

Protein family

Disease related genes, Mapped to UniProt SWISS-PROT, Predicted intracellular proteins, Protein evidence (Ezkurdia et al 2014), Protein evidence (Kim et al 2014)

Chromosome

14:q24.3 (75902136 - 76084585)

Ensembl ID

ENSG00000119650  (ver. 84.38)

Orthologs

Mouse Ift43: ENSMUSG00000007867

UniProt

Q96FT9

neXtProt

NX_Q96FT9

Human splice variants
Mouse splice variants