AAH10436.1
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
Chromosome 14 open reading frame 179
NCBI Official Synonym Full Names
intraflagellar transport 43 homolog (Chlamydomonas)
NCBI Protein Information
intraflagellar transport protein 43 homolog; IFT complex A subunit
UniProt Protein Name
Intraflagellar transport protein 43 homolog
UniProt Synonym Gene Names
UniProt Entry Name
IFT43_HUMAN
NCBI Summary for 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]
UniProt Comments for IFT43
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.
Research Articles on IFT43
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Diseases associated with anti-IFT43 antibody
Organs/Tissues associated with anti-IFT43 antibody
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