Use your antibodies-online credentials, if available.
No Products on your Comparison List.
Your basket is empty.
Find out more
Show all synonyms
Select your origin of interest
Data show that IFT122 controls the ciliary localization of Shh (show SHH Proteins) pathway regulators in different ways.
Studies on a complex A mutant mouse, defective for the Ift122 gene, is reported.
The three patients had different, novel, compound heterozygous mutations in IFT122. Consequently, we compared these three patients to those previously described with IFT122 mutations. Thus, our report serves to add 6 novel mutations to the IFT122 mutation spectrum and to contribute to the IFT122-related clinical characterization.
this study was able to find causative IFT122 mutations in a non-consanguineous family with recurrent abortions.
we found a homozygous missense mutation in the IFT122 (WDR10) gene that cosegregated with Sensenbrenner syndrome
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This cytoplasmic protein contains seven WD repeats and an AF-2 domain which function by recruiting coregulatory molecules and in transcriptional activation. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.
intraflagellar transport 122 homolog (Chlamydomonas)
, intraflagellar transport protein 122 homolog
, WD repeat domain 10
, WD repeat-containing protein 10
, intraflagellar transport 122 homolog
, WD repeat-containing protein 140