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The protein encoded by MKS1 localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells.
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Human Polyclonal MKS1 Primary Antibody for IHC, IHC (p) - ABIN4334845
Mahuzier, Gaudé, Grampa, Anselme, Silbermann, Leroux-Berger, Delacour, Ezan, Montcouquiol, Saunier, Schneider-Maunoury, Vesque: Dishevelled stabilization by the ciliopathy protein Rpgrip1l is essential for planar cell polarity. in The Journal of cell biology 2012
we have described a pathogenic variant in the MKS1 resulting in a mild Joubert syndrome phenotype, which broadens the spectrum of mutations in the MKS1.
Dnah11 (show DNAH11 Antibodies)(avc)(4) did not disrupt SHF (show SHF Antibodies) Hh signaling and caused Atrioventricular septal defects (AVSDs) only concurrently with heterotaxy, a left/right axis abnormality. In contrast, Mks1(avc)(6) disrupted SHF (show SHF Antibodies) Hh signaling and caused AVSDs without heterotaxy.We speculate that cilia gene mutations contribute to both syndromic and non-syndromic AVSDs in humans
MKS1 functions in the transition zone at the base of the cilium to regulate ciliary INPP5E content.
describe four patients with mild Joubert phenotypes who carry pathogenic mutations in either MKS1 or B9D1 (show B9D1 Antibodies), two genes previously implicated only in Meckel syndrome
identification of a gene, MKS1,(Meckel syndrome) mutated in MKS families linked to 17q.
The Meckel-Gruber Syndrome proteins MKS1 and meckelin (show TMEM67 Antibodies) interact and are required for primary cilium formation.
Study concluded that MKS1 and MKS3 (show TMEM67 Antibodies) account for the majority of Meckel-Gruber syndrome; polydactyly is usually found in MKS1 but rare in MKS3 (show TMEM67 Antibodies); cases with no, or milder, CNS phenotypes were only found in MKS3 (show TMEM67 Antibodies).
genotyping of MKS1 & MKS3 (show TMEM67 Antibodies) genes in a large, multiethnic cohort of 120 independent cases of Meckel syndrome; first results indicate that the MKS1 & MKS3 (show TMEM67 Antibodies) genes are each responsible for about 7% of MKS cases with various mutations in different populations
Our results indicate that MKS1 mutations are not restricted to the Caucasian gene pool and suggest splicing defects are a crucial mutational mechanism in MKS1, and further genetic heterogeneity for MKS.
Mutations in MKS1 is associated with Bardet-Biedl syndrome
demonstrated that the MKS (show MKKS Antibodies) transition zone complex cooperates with the BBSome to mediate trafficking of specific trans-membrane receptors to the cilium
Centriole localization of Mks1 is required for ciliogenesis of motile and non-motile cilia, but not for centriole assembly.
Mks1 is required for ciliogenesis and shh (show SHH Antibodies) signaling in mouse model of human meckel syndrome.
Mks1 expression in mouse embryos, as determined by in situ hybridization, agrees well with the tissue phenotype of MKS (show MKKS Antibodies).
The protein encoded by this gene localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. Mutations in this gene result in Meckel syndrome type 1 and in Bardet-Biedl syndrome type 13. Multiple transcript variants encoding different isoforms have been found for this gene.
FABB proteome-like protein
, Meckel syndrome type 1 protein
, POC12 centriolar protein homolog
, Meckel syndrome type 1 protein homolog