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MFSD8 (基因名), Major facilitator superfamily domain-containing protein 8 (蛋白名), MFSD8_HUMAN.
产品名称:

Human MFSD8/ Major facilitator superfamily domain-containing protein 8 Recombinant Protein

货号:
-
商标:
EIAab®
监管等级:
别名:

Ceroid-lipofuscinosis neuronal protein 7, CLN7

序列号:
Q8NHS3
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 MFSD8 Protein
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Human MFSD8 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: 4q28.2 by HGNC 4q28.2 by Entrez Gene 4q28.2 by Ensembl
MFSD8 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:
N/A


功能:
May be a carrier that transport small solutes by using chemiosmotic ion gradients.


亚细胞位置:
Lysosome membrane Multi-pass membrane protein Sorting to lysosomes involves tyrosine- and/or dileucine-based motifs.


该产品尚未在任何出版物中被引用。

[1].
"The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter."

[2].
"Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy."

[3].
"A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis."

[4].
"Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis."

[5].
"Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis."

[6].
"Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging."

[7].
"Integral and associated lysosomal membrane proteins."

[8].
"Architecture of the human interactome defines protein communities and disease networks."

[9].
"Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy."

[10].
"The BioPlex Network: A Systematic Exploration of the Human Interactome."
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