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 (16) 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
Insect Cells Human His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Log in to see 60 Days
$7,759.50
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Insect Cells Mouse His tag „Crystallography Grade“ protein due to multi-step, protein-specific purification process 1 mg Log in to see 60 Days
$7,759.50
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Yeast Rat His tag   1 mg Log in to see 60 to 71 Days
$3,608.00
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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. 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.

  2. Dnah11(avc)(4) did not disrupt SHF (show SHF Proteins) 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 Proteins) Hh signaling and caused AVSDs without heterotaxy.We speculate that cilia gene mutations contribute to both syndromic and non-syndromic AVSDs in humans

  3. MKS1 functions in the transition zone at the base of the cilium to regulate ciliary INPP5E content.

  4. 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

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

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

  7. 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.

  8. 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

  9. 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.

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

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

  1. demonstrated that the MKS (show MKKS Proteins) transition zone complex cooperates with the BBSome to mediate trafficking of specific trans-membrane receptors to the cilium

  2. Dnah11(avc)(4) did not disrupt SHF (show SHF Proteins) 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 Proteins) Hh signaling and caused AVSDs without heterotaxy.We speculate that cilia gene mutations contribute to both syndromic and non-syndromic AVSDs in humans

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

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

  5. 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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