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MKS1 (基因名), Meckel syndrome type 1 protein (蛋白名), MKS1_HUMAN.
产品名称:

Human MKS1/ Meckel syndrome type 1 protein Recombinant Protein

货号:
-
商标:
EIAab®
监管等级:
序列号:
Q9NXB0
来源:
E.coli
种属:
Human
标签:
His
纯度:
>90% by SDS-PAGE
浓度:
Reconstitution Dependent
形态:
Liquid
内毒素水平:
Please contact protein@eiaab.com The technician for more information.
应用:
存储缓冲液:
50mM NaH2PO4, 500mM NaCl Buffer with 500mM Imidazole, 10%glycerol(PH8.0)
存储:
Store at -20°C. (Avoid repeated freezing and thawing.)
研究领域:
-
Human MKS1 Protein
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Human MKS1 Protein
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产品说明书
说明书: 下载说明书
MSDS: MSDS


基因位点
Cytogenetic band: 17q22 by HGNC 17q22 by Entrez Gene 17q22 by Ensembl
MKS1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
基因位点
通用注释


亚单元:
Part of the tectonic-like complex (also named B9 complex) (By similarity). Interacts with TCTN3 and AHI1 (By similarity). Interacts with FLNA.


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.


亚细胞位置:
Cytoplasm Cytoskeleton Cilium basal body Cytoplasm Cytoskeleton Microtubule organizing center Centrosome Localizes at the transition zone, a region between the basal body and the ciliary axoneme.


该产品尚未在任何出版物中被引用。

[1].
"Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins."

[2].
"Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome."

[3].
"The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation."

[4].
"Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online."

[5].
"A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome."

[6].
"MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome."

[7].
"MKS1 regulates ciliary INPP5E levels in Joubert syndrome."

[8].
"TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert?syndrome."

[9].
"Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome."

[10].
"Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3."
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