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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. Additionally we are shipping MKS1 Antibodies (11) and many more products for this protein.
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describe four patients with mild Joubert phenotypes who carry pathogenic mutations in either MKS1 or B9D1 (show B9D1 Proteins), 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 interact and are required for primary cilium formation.
Study concluded that MKS1 and MKS3 account for the majority of Meckel-Gruber syndrome; polydactyly is usually found in MKS1 but rare in MKS3; cases with no, or milder, CNS phenotypes were only found in MKS3.
genotyping of MKS1 & MKS3 genes in a large, multiethnic cohort of 120 independent cases of Meckel syndrome; first results indicate that the MKS1 & MKS3 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
MKS-1 and MKS-1-related proteins 1 and 2 (MKSR-1 (show B9D1 Proteins), MKSR-2 (show B9D2 Proteins)), localize to transition zones/basal bodies of sensory cilia; subcellular localization is largely co-dependent, pointing to a functional relationship between the proteins
Kidney tissue and cells from MKS1 and MKS3 patients showed defects in centrosome and cilia number, including multi-ciliated respiratory-like epithelia, and longer cilia.
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 Proteins) 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 Proteins).
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