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CNTNAP1 (基因名), Contactin-associated protein 1 (蛋白名), cntp1_human.
产品名称:

Human CNTNAP1/ Contactin-associated protein 1 Recombinant Protein

货号:
-
商标:
EIAab®
监管等级:
别名:

Neurexin IV, Neurexin-4, p190, Caspr, CASPR, NRXN4

序列号:
P78357
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 CNTNAP1 Protein
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Human CNTNAP1 Protein
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产品说明书
说明书: 下载说明书
MSDS: MSDS
在线询价


基因位点
Cytogenetic band: 17q21.2 by HGNC 17q21.2 by Entrez Gene 17q21.2 by Ensembl
CNTNAP1 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:
Interacts with contactin in cis form.


功能:
Seems to play a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Seems to demarcate the paranodal region of the axo-glial junction. In association with contactin may have a role in the signaling between axons and myelinating glial cells.


亚细胞位置:
Membrane Single-pass type I membrane protein


该产品尚未在任何出版物中被引用。

[1].
"Identification of a novel contactin-associated transmembrane receptor with multiple domains implicated in protein-protein interactions."

[2].
"Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy."

[3].
"CNTNAP1 mutations cause CNS hypomyelination and neuropathy with or without arthrogryposis."

[4].
"Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy."

[5].
"Contactin-Associated Protein 1 (CNTNAP1) Mutations Induce Characteristic Lesions of the Paranodal Region."

[6].
"Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects."

[7].
"Risk of meningioma and common variation in genes related to innate immunity."

[8].
"Polymorphisms in innate immunity genes and risk of childhood leukemia."

[9].
"Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment."

[10].
"Candidate gene approach evaluates association between innate immunity genes and breast cancer risk in Korean women."
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