NP_001177170.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
123,321 Da
NCBI Official Full Name
intraflagellar transport protein 80 homolog isoform b
NCBI Official Synonym Full Names
intraflagellar transport 80
NCBI Protein Information
intraflagellar transport protein 80 homolog
UniProt Protein Name
Intraflagellar transport protein 80 homolog
UniProt Synonym Protein Names
WD repeat-containing protein 56
UniProt Synonym Gene Names
UniProt Entry Name
IFT80_HUMAN
NCBI Summary for IFT80
The protein encoded by this gene is part of the intraflagellar transport complex B and is necessary for the function of motile and sensory cilia. Defects in this gene are a cause of asphyxiating thoracic dystrophy 2 (ATD2). Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Jun 2010]
UniProt Comments for IFT80
IFT80: Component of the intraflagellar transport (IFT) complex B, which is essential for the development and maintenance of motile and sensory cilia. Defects in IFT80 are the cause of asphyxiating thoracic dystrophy type 2 (ATD2). An autosomal recessive chondrodysplasia characterized by a severely constricted thoracic cage, short-limbed short stature, and polydactyly. It often leads to death in infancy because of respiratory insufficiency. Retinal degeneration, cystic renal disease and hepatic disease can be present in affected individuals who survive early childhood.
Chromosomal Location of Human Ortholog: 3q25.33
Cellular Component: centrosome; cilium; cytoplasm
Biological Process: cilium biogenesis; organelle organization and biogenesis
Disease: Short-rib Thoracic Dysplasia 2 With Or Without Polydactyly
Research Articles on IFT80
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Products associated with anti-IFT80 antibody
Pathways associated with anti-IFT80 antibody
Diseases associated with anti-IFT80 antibody
Organs/Tissues associated with anti-IFT80 antibody
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