MKS1 Antibody

說明書

中文名稱：

MKS1兔多克隆抗體
貨號：

CSB-PA014615GA01HU
規格：

￥3,900
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

Uniprot No.：

Q9NXB0
基因名：

MKS1
別名：

B8d3 antibody; BBS13 antibody; Dysencephalia splanchnocystica antibody; FABB proteome like protein antibody; FLJ20345 antibody; Gruber syndrome antibody; Meckel gruber syndrome antibody; Meckel gruber syndrome type 1 antibody; Meckel syndrome antibody; Meckel syndrome type 1 antibody; Meckel syndrome type 1 protein antibody; Meckel syndrome type 1 protein homolog antibody; MES antibody; MKS 1 antibody; MKS antibody; Mks1 antibody; MKS1_HUMAN antibody; POC12 antibody; POC12 centriolar protein homolog antibody
宿主：

Rabbit
反應種屬：

Human,Mouse,Rat
免疫原：

Human BBS13
免疫原種屬：

Homo sapiens (Human)
抗體亞型：

IgG
純化方式：

Antigen Affinity purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
產品提供形式：

Liquid
應用范圍：

ELISA,WB,IF
Protocols：

ELISA Protocol
Western Blotting (WB) Protocol
Immunofluorescence (IF) Protocol
儲存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期：

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
用途：

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產品評價

靶點詳情

功能：

Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in centrosome migration to the apical cell surface during early ciliogenesis. Required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication. Required for cell branching morphology.
基因功能參考文獻：
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. PMID: 27570071
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 PMID: 27340223
3. MKS1 functions in the transition zone at the base of the cilium to regulate ciliary INPP5E content. PMID: 26490104
4. describe four patients with mild Joubert phenotypes who carry pathogenic mutations in either MKS1 or B9D1, two genes previously implicated only in Meckel syndrome PMID: 24886560
5. identification of a gene, MKS1,(Meckel syndrome) mutated in MKS families linked to 17q. PMID: 16415886
6. The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. PMID: 17185389
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. PMID: 17377820
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 PMID: 17397051
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. PMID: 17437276
10. Mutations in MKS1 is associated with Bardet-Biedl syndrome PMID: 18327255
11. MKS-1 and MKS-1-related proteins 1 and 2 (MKSR-1, MKSR-2), localize to transition zones/basal bodies of sensory cilia; subcellular localization is largely co-dependent, pointing to a functional relationship between the proteins PMID: 19208769
12. Kidney tissue and cells from MKS1 and MKS3 patients showed defects in centrosome and cilia number, including multi-ciliated respiratory-like epithelia, and longer cilia. PMID: 19515853
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相關疾病：

Meckel syndrome 1 (MKS1); Bardet-Biedl syndrome 13 (BBS13); Joubert syndrome 28 (JBTS28)
亞細胞定位：

Cytoplasm, cytoskeleton, cilium basal body. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome.
數據庫鏈接：

HGNC: 7121

OMIM: 249000

KEGG: hsa:54903

STRING: 9606.ENSP00000376827

UniGene: Hs.408843

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