C14orf179 (IFT43) Antibody – Rabbit Polyclonal

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]

Function: Component of IFT complex A (IFT-A) involved in retrograde ciliary transport along microtubules from the ciliary tip to the base. Ref.7

Subunit structure: Component of the IFT complex A (IFT-A) complex

Probable. Interacts with WDR35/IFT121. Ref.4 Ref.5

Subcellular location: Cytoplasm › cytoskeleton. Note: Associated with microtubules. Ref.8

Involvement in disease: Cranioectodermal dysplasia 3 (CED3) [MIM:614099]: A disorder primarily characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include craniosynostosis, narrow rib cage, short limbs, brachydactyly, hypoplastic and widely spaced teeth, sparse hair, skin laxity and abnormal nails. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.7

Sequence similarities: Belongs to the IFT43 family.