anti-Meckel Syndrome, Type 1 (MKS1) Anticorps

The protein encoded by MKS1 localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. De plus, nous expédions MKS1 Protéines (3) et beaucoup plus de produits pour cette protéine.

afficher tous les anticorps Gène GeneID UniProt
MKS1 54903 Q9NXB0
MKS1 380718 Q5SW45
MKS1 287612 Q499Q5
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Top anti-MKS1 Anticorps sur anticorps-enligne.fr

Showing 10 out of 16 products:

Catalogue No. Reactivité Hôte Conjugué Application Images Quantité Fournisseur Livraison Prix Détails
Humain Lapin Inconjugué IHC, IHC (p), WB Western Blot: MKS1 Antibody [NBP1-88691] - Lane 1: Marker [kDa] 230, 130, 95, 72, 56, 36, 28, 17, 11.Lane 2: Human cell line RT-4 Immunohistochemistry-Paraffin: MKS1 Antibody [NBP1-88691] - Staining of human rectum shows strong cytoplasmic positivity in glandular cells. 0.1 mL Connectez-vous pour afficher 10 to 13 Days
$491.63
Détails
Boeuf (Vache) Lapin Inconjugué IHC (p) Immunohistochemistry-Paraffin: MKS1 Antibody [NLS6809] - Analysis of anti-DUSP22 antibody with human kidney. 0.05 mL Connectez-vous pour afficher 7 to 9 Days
$514.63
Détails
Humain Lapin Inconjugué IHC, IHC (p), WB Western Blot: MKS1 Antibody [NBP2-17303] - Sample (30 ug of whole cell lysate) A: JurKat 10% SDS PAGE gel, diluted at 1:2000. Immunohistochemistry-Paraffin: MKS1 Antibody [NBP2-17303] - Immunohistochemical analysis of paraffin-embedded A549 xenograft, using antibody at 1:100 dilution. 0.1 mL Connectez-vous pour afficher 8 to 11 Days
$514.63
Détails
Humain Lapin Inconjugué IHC, IHC (p), WB Western Blot: MKS1 Antibody [NBP1-88692] - Lane 1: Marker [kDa] 230, 130, 95, 72, 56, 36, 28, 17, 11.Lane 2: Human cell line RT-4 Immunohistochemistry-Paraffin: MKS1 Antibody [NBP1-88692] - Staining of human colon shows strong cytoplasmic positivity in glandular cells. 0.1 mL Connectez-vous pour afficher 10 to 13 Days
$491.63
Détails
Humain Lapin Inconjugué IF, WB Western blot analysis of extract of various cells, using MKS1 antibody. 100 μL Connectez-vous pour afficher 16 Days
$476.15
Détails
Humain Lapin Inconjugué WB   200 μL Connectez-vous pour afficher 13 to 14 Days
$487.50
Détails
Humain Lapin Inconjugué IF (p), IHC (p), WB   100 μL Connectez-vous pour afficher 3 to 7 Days
$306.90
Détails
Humain Lapin Inconjugué IF, ELISA, WB   50 μL Connectez-vous pour afficher 13 to 16 Days
$313.50
Détails
Humain Lapin Inconjugué IHC (p), WB   100 μL Connectez-vous pour afficher 11 to 12 Days
$460.00
Détails
Humain Lapin Inconjugué IHC, ELISA, WB   100 μL Connectez-vous pour afficher 3 to 4 Days
$176.32
Détails

MKS1 Anticorps par réactivité, application, clonalité et conjugué

Attributs Application Hôte Clonalité
Human ,


Mouse (Murine)


Rat (Rattus)


anti-MKS1 Anticorps mieux référencés

  1. Human Polyclonal MKS1 Primary Antibody pour 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. dans The Journal of cell biology 2012 (PubMed)

Plus d’anticorps contre MKS1 partenaires d’interaction

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 (Montrer DNAH11 Anticorps)(avc)(4) did not disrupt SHF (Montrer SHF Anticorps) Hh signaling and caused Atrioventricular septal defects (AVSDs) only concurrently with heterotaxy, a left/right axis abnormality. In contrast, Mks1(avc)(6) disrupted SHF (Montrer SHF Anticorps) 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 (Montrer B9D1 Anticorps), 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 (Montrer TMEM67 Anticorps) interact and are required for primary cilium formation.

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

  8. genotyping of MKS1 & MKS3 (Montrer TMEM67 Anticorps) genes in a large, multiethnic cohort of 120 independent cases of Meckel syndrome; first results indicate that the MKS1 & MKS3 (Montrer TMEM67 Anticorps) 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 (Montrer MKKS Anticorps) transition zone complex cooperates with the BBSome to mediate trafficking of specific trans-membrane receptors to the cilium

  2. Dnah11 (Montrer DNAH11 Anticorps)(avc)(4) did not disrupt SHF (Montrer SHF Anticorps) Hh signaling and caused Atrioventricular septal defects (AVSDs) only concurrently with heterotaxy, a left/right axis abnormality. In contrast, Mks1(avc)(6) disrupted SHF (Montrer SHF Anticorps) 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 (Montrer SHH Anticorps) 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 (Montrer MKKS Anticorps).

MKS1 profil antigène

Profil protéine

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

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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