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Rabbit Anti-IFT172 antibody
This gene encodes a subunit of the intraflagellar transport subcomplex IFT-B. Subcomplexes IFT-A and IFT-B are necessary for ciliary assembly and maintenance. Mutations in this gene have been associated with skeletal ciliopathies, with or without polydactyly, such as such short-rib thoracic dysplasias 1, 9 or 10. [provided by RefSeq, Mar 2014]
Function:
Required for the maintenance and formation of cilia. Plays an indirect role in hedgehog (Hh) signaling, cilia being required for all activity of the hedgehog pathway.
Subunit:
Interacts with IFT88.
Subcellular Location:
Secreted.
Similarity:
Belongs to the IFT172 family.
Contains 14 TPR repeats.
Contains 9 WD repeats.
SWISS:
Q9UG01
Gene ID:
26160
Database links:
Entrez Gene: 26160 Human
Omim: 607386 Human
SwissProt: Q9UG01 Human
Unigene: 127401 Human
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