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TMEM67 (基因名), Meckelin (蛋白名), MKS3_HUMAN.
产品名称:

Human TMEM67/ Meckelin Recombinant Protein

货号:
-
商标:
EIAab®
监管等级:
别名:

Meckel syndrome type 3 protein, Transmembrane protein 67, MKS3

序列号:
Q5HYA8
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 TMEM67 Protein
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Human TMEM67 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: 8q22.1 by HGNC 8q22.1 by Entrez Gene 8q22.1 by Ensembl
TMEM67 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 DNAJB9, DNAJC10 and mutated SFTPC. Interacts with SYNE2 during the early establishment of cell polarity. Interacts (via C-terminus) with FLNA.


功能:
Required for ciliary structure and function. Part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition (By similarity). Involved in centrosome migration to the apical cell surface during early ciliogenesis. Involved in the regulation of cilia length and appropriate number through the control of centrosome duplication. Required for cell branching morphology. Essential for endoplasmic reticulum-associated degradation (ERAD) of surfactant protein C (SFTPC).


亚细胞位置:
Cell membrane Multi-pass membrane protein Endoplasmic reticulum membrane Multi-pass membrane protein Cytoplasm Cytoskeleton Cilium basal body 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].
"Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)."

[2].
"Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)."

[3].
"Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies."

[4].
"MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement."

[5].
"Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton."
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