anti-Meckel Syndrome, Type 1 (MKS1) 抗体

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 蛋白 (3)和数多这个蛋白质的别的产品。

列出全部抗体 基因 基因ID UniProt
MKS1 54903 Q9NXB0
MKS1 380718 Q5SW45
MKS1 287612 Q499Q5
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Showing 10 out of 17 products:

产品编号 适用 宿主 标记 应用范围 图像 规格 供应商 交付 价格 详细
非结合性 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 Log in to see 8至11个工作日
$447.56
详细
非结合性 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 Log in to see 10至13个工作日
$439.69
详细
非结合性 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 Log in to see 10至13个工作日
$439.69
详细
非结合性 IF, WB Western blot analysis of extract of various cells, using MKS1 antibody. 100 μL Log in to see 16 Days
$460.63
详细
Cow 非结合性 IHC (p) Immunohistochemistry-Paraffin: MKS1 Antibody [NLS6809] - Analysis of anti-DUSP22 antibody with human kidney. 0.05 mL Log in to see 7至9个工作日
$447.56
详细
非结合性 WB   200 μL Log in to see 13至14个工作日
$487.50
详细
非结合性 IF (p), IHC (p), WB   100 μL Log in to see 3至7个工作日
$295.90
详细
非结合性 IF, ELISA, WB   50 μL Log in to see 13至16个工作日
$313.50
详细
非结合性 IHC (p), WB   100 μL Log in to see 11至12个工作日
$420.00
详细
非结合性 IHC, ELISA, WB   100 μL Log in to see 3至4个工作日
$157.06
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通过反应活性、应用领域、克隆类型和共轭标记 MKS1 抗体

特性 应用范围 宿主 克隆类型
Human ,


Mouse (Murine)


Rat (Rattus)


引用最多的anti-MKS1 抗体

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

更多抗MKS1的相互作用对抗体

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

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

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

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

MKS1 抗原简介

蛋白简介

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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