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. Zusätzlich bieten wir Ihnen MKS1 Antikörper (16) und MKS1 Proteine (3) und viele weitere Produktgruppen zu diesem Protein an.

list all ELISA KIts Gen GeneID UniProt
Anti-Human MKS1 MKS1 54903 Q9NXB0
Anti-Maus MKS1 MKS1 380718 Q5SW45
Anti-Ratte MKS1 MKS1 287612 Q499Q5
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Weitere ELISA Kits für MKS1 Interaktionspartner

Human Meckel Syndrome, Type 1 (MKS1) Interaktionspartner

  1. Dnah11(avc)(4) did not disrupt SHF Hh signaling and caused Atrioventricular septal defects (AVSDs) only concurrently with heterotaxy, a left/right axis abnormality. In contrast, Mks1(avc)(6) disrupted SHF Hh signaling and caused AVSDs without heterotaxy.We speculate that cilia gene mutations contribute to both syndromic and non-syndromic AVSDs in humans

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

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

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

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

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

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

  8. 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.

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

  10. MKS-1 and MKS-1-related proteins 1 and 2 (MKSR-1 (zeige B9D1 ELISA Kits), MKSR-2 (zeige 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

Mouse (Murine) Meckel Syndrome, Type 1 (MKS1) Interaktionspartner

  1. demonstrated that the MKS (zeige MKKS ELISA Kits) 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 Hh signaling and caused Atrioventricular septal defects (AVSDs) only concurrently with heterotaxy, a left/right axis abnormality. In contrast, Mks1(avc)(6) disrupted SHF 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 (zeige SHH ELISA Kits) 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 (zeige MKKS ELISA Kits).

MKS1 Antigen-Profil

Beschreibung des Gens

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.

Genbezeichner und Symbole assoziert mit MKS1

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

Bezeichner auf Proteinebene für MKS1

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

GENE ID SPEZIES
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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