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Meckel Syndrome, Type 1 Proteins (MKS1)

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 (10) and many more products for this protein.

list all proteins Gene Name GeneID UniProt
MKS1 54903 Q9NXB0
MKS1 380718 Q5SW45
MKS1 287612 Q499Q5
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Top MKS1 Proteins at antibodies-online.com

Showing 3 out of 3 products:

Catalog No. Origin Source Conjugate Images Quantity Supplier Delivery Price Details
HOST_Escherichia coli (E. coli) Human His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Log in to see 29 to 34 Days
$4,331.68
Details
HOST_Escherichia coli (E. coli) Mouse His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Log in to see 29 to 34 Days
$4,331.68
Details
Yeast Rat His tag   1 mg Log in to see 56 to 66 Days
$3,608.00
Details

MKS1 Proteins by Origin and Source

Origin Expressed in Conjugate
Human

Mouse (Murine)

Rat (Rattus)

More Proteins for Meckel Syndrome, Type 1 (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 content.

  2. 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

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

  4. The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.

  5. 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.

  6. 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

  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 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

  10. 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.

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 Proteins) 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 Proteins).

MKS1 Protein Profile

Protein 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 Meckel Syndrome, Type 1 Proteins (MKS1)

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

Protein level used designations for Meckel Syndrome, Type 1 Proteins (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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