Meckel Syndrome, Type 1 (MKS1) ELISA试剂盒

The protein encoded by MKS1 localizes to the basal body and is required for formation of the primary cilium in ciliated epithelial cells. 再加上,我们可以发MKS1 抗体 (16)MKS1 蛋白 (3)和数多这个蛋白质的别的产品。

list all ELISA KIts 基因 基因ID UniProt
 MKS1 MKS1 54903 Q9NXB0
小鼠 MKS1 MKS1 380718 Q5SW45
大鼠 MKS1 MKS1 287612 Q499Q5

适于 MKS1 相互作用对的更多 ELISA 试剂盒

Human Meckel Syndrome, Type 1 (MKS1) interaction partners

  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 (显示 PMPCA ELISA试剂盒) content.

  3. describe four patients with mild Joubert phenotypes who carry pathogenic mutations in either MKS1 or B9D1 (显示 B9D1 ELISA试剂盒), 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 (显示 TMEM67 ELISA试剂盒) interact and are required for primary cilium formation.

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

  7. genotyping of MKS1 & MKS3 (显示 TMEM67 ELISA试剂盒) genes in a large, multiethnic cohort of 120 independent cases of Meckel syndrome; first results indicate that the MKS1 & MKS3 (显示 TMEM67 ELISA试剂盒) 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 (显示 B9D1 ELISA试剂盒), MKSR-2 (显示 B9D2 ELISA试剂盒)), 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) interaction partners

  1. demonstrated that the MKS (显示 MKKS ELISA试剂盒) 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 (显示 SHH ELISA试剂盒) 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 (显示 MKKS ELISA试剂盒).

MKS1 抗原简介

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

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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