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Human Polyclonal IFT43 Primary Antibody pour ICC, IF - ABIN4321240
Stadler, Hjelmare, Neumann, Jonasson, Pepperkok, Uhlén, Lundberg: Systematic validation of antibody binding and protein subcellular localization using siRNA and confocal microscopy. dans Journal of proteomics 2012
Studies identified a novel homozygous mutation in the ciliary protein IFT43 as the underlying cause of recessive inherited retinal degeneration. This is the first report demonstrating the involvement of IFT43 in retinal degeneration.
These results suggest that CED-4 forms a complex with ced-3 mRNA and delivers it to ribosomes for translation.
C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome.
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.
intraflagellar transport protein 43 homolog
, IFT complex A subunit