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Human Polyclonal IFT122 Primary Antibody for ICC, IF - ABIN4321235
Stadler, Rexhepaj, Singan, Murphy, Pepperkok, Uhlén, Simpson, Lundberg: Immunofluorescence and fluorescent-protein tagging show high correlation for protein localization in mammalian cells. in Nature methods 2013
Human Polyclonal IFT122 Primary Antibody for ELISA, WB - ABIN565918
Jiang, Chiou, Wang, Chien, Ho, Tsai, Lin, Tsai, Li: Essential role of nephrocystin in photoreceptor intraflagellar transport in mouse. in Human molecular genetics 2009
The C11ORF74, interacts with the IFT-A complex via the IFT122 subunit and is accumulated at the distal tip in the absence of an IFT-A subunit IFT139, suggesting that at least a fraction of C11ORF74 molecules can be transported towards the ciliary tip by associating with the IFT-A complex, although its majority might be out of cilia at steady state.
Data show that IFT122 controls the ciliary localization of Shh pathway regulators in different ways.
Studies on a complex A mutant mouse, defective for the Ift122 gene, is reported.
This study demonstrated that the mutation in SPG 7 gene caused autosomal recessive hereditary spastic paraparesis.
IFT122 mutations associated with cranioectodermal dysplasia 1 cause defects in ciliary protein trafficking, but not ciliogenesis when expressed in cells lacking endogenous IFT122 (IFT122 KO).
All the nine probands with syndromic craniosynostosis were found to carry the possibly causative variants, among which three variants including two missense mutations in IFT122 gene, in SMC1A gene and a frameshift mutation in TWIST1 gene have never been reported in patients before.
Using a panel of skeletal dysplasias genes, including 11 related to SRP, we identified biallelic mutations in IFT122 in a fetus with a typical phenotype of SRP-IV, finally confirmed that this phenotype is a ciliopathy and adding to the list of ciliopathies with major skeletal involvement.
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