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Meckel Syndrome, Type 1 (MKS1) ELISA Kits

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 (13) and MKS1 Proteins (3) and many more products for this protein.

list all ELISA KIts Gene Name GeneID UniProt
Anti-Human MKS1 MKS1 54903 Q9NXB0
Anti-Mouse MKS1 MKS1 380718 Q5SW45
Anti-Rat MKS1 MKS1 287612 Q499Q5
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More ELISA Kits for MKS1 Interaction Partners

Human Meckel Syndrome, Type 1 (MKS1) interaction partners

  1. MKS1 functions in the transition zone at the base of the cilium to regulate ciliary INPP5E (show PMPCA ELISA Kits) content.

  2. describe four patients with mild Joubert phenotypes who carry pathogenic mutations in either MKS1 or B9D1 (show B9D1 ELISA Kits), two genes previously implicated only in Meckel syndrome

  3. identification of a gene, MKS1,(Meckel syndrome) mutated in MKS families linked to 17q.

  4. The Meckel-Gruber Syndrome proteins MKS1 and meckelin (show TMEM67 ELISA Kits) interact and are required for primary cilium formation.

  5. Study concluded that MKS1 and MKS3 (show TMEM67 ELISA Kits) account for the majority of Meckel-Gruber syndrome; polydactyly is usually found in MKS1 but rare in MKS3 (show TMEM67 ELISA Kits); cases with no, or milder, CNS phenotypes were only found in MKS3 (show TMEM67 ELISA Kits).

  6. genotyping of MKS1 & MKS3 (show TMEM67 ELISA Kits) genes in a large, multiethnic cohort of 120 independent cases of Meckel syndrome; first results indicate that the MKS1 & MKS3 (show TMEM67 ELISA Kits) genes are each responsible for about 7% of MKS cases with various mutations in different populations

  7. 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.

  8. Mutations in MKS1 is associated with Bardet-Biedl syndrome

  9. MKS-1 and MKS-1-related proteins 1 and 2 (MKSR-1 (show B9D1 ELISA Kits), MKSR-2 (show B9D2 ELISA Kits)), localize to transition zones/basal bodies of sensory cilia; subcellular localization is largely co-dependent, pointing to a functional relationship between the proteins

  10. Kidney tissue and cells from MKS1 and MKS3 (show TMEM67 ELISA Kits) patients showed defects in centrosome and cilia number, including multi-ciliated respiratory-like epithelia, and longer cilia.

Mouse (Murine) Meckel Syndrome, Type 1 (MKS1) interaction partners

  1. Centriole localization of Mks1 is required for ciliogenesis of motile and non-motile cilia, but not for centriole assembly.

  2. Mks1 is required for ciliogenesis and shh (show SHH ELISA Kits) signaling in mouse model of human meckel syndrome.

  3. Mks1 expression in mouse embryos, as determined by in situ hybridization, agrees well with the tissue phenotype of MKS (show MKKS ELISA Kits).

MKS1 Antigen Profile

Antigen Summary

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.

Gene names and symbols associated with MKS1

  • Meckel syndrome, type 1 (MKS1) antibody
  • Meckel syndrome, type 1 (Mks1) antibody
  • AK190930 antibody
  • B8d3 antibody
  • BBS13 antibody
  • MES antibody
  • MKS antibody
  • POC12 antibody

Protein level used designations for MKS1

FABB proteome-like protein , Meckel syndrome type 1 protein , POC12 centriolar protein homolog , Meckel syndrome type 1 protein homolog

GENE ID SPECIES
100056833 Equus caballus
54903 Homo sapiens
380718 Mus musculus
287612 Rattus norvegicus
491110 Canis lupus familiaris
100514538 Sus scrofa
530761 Bos taurus
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