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首页  >  重组蛋白  >  Human ABHD5 Recombinant Protein
ABHD5 (基因名), 1-acylglycerol-3-phosphate O-acyltransferase ABHD5 (蛋白名), ABHD5_HUMAN.
产品名称:

Human ABHD5/ 1-acylglycerol-3-phosphate O-acyltransferase ABHD5 Recombinant Protein

货号:
-
商标:
EIAab®
监管等级:
别名:

Abhydrolase domain-containing protein 5, Lipid droplet-binding protein CGI-58, CGI-58, NCIE2

序列号:
Q8WTS1
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:
Cardiovascular
Human ABHD5 Protein
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Human ABHD5 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: 3p21.33 by HGNC 3p21.33 by Entrez Gene 3p21.33 by Ensembl
ABHD5 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 ADRP, PLIN and PNPLA2. Interacts with PLIN5; promotes interaction with PNPLA2.


功能:
Lysophosphatidic acid acyltransferase which functions in phosphatidic acid biosynthesis (PubMed:18606822). May regulate the cellular storage of triacylglycerol through activation of the phospholipase PNPLA2 (PubMed:16679289). Involved in keratinocyte differentiation (PubMed:18832586). Regulates lipid droplet fusion.


亚细胞位置:
Cytoplasm Lipid droplet Colocalized with PLIN and ADRP on the surface of lipid droplets. The localization is dependent upon the metabolic status of the adipocytes and the activity of PKA (By similarity).


该产品尚未在任何出版物中被引用。

[1].
"Mutations in CGI-58, the gene encoding a new protein of the esterase/lipase/thioesterase subfamily, in Chanarin-Dorfman syndrome."

[2].
"CGI-58, the causative gene for Chanarin-Dorfman syndrome, mediates acylation of lysophosphatidic acid."

[3].
"CGI-58 is an alpha/beta-hydrolase within lipid transporting lamellar granules of differentiated keratinocytes."

[4].
"Two new mutations of the ABHD5 gene in a new adult case of Chanarin Dorfman syndrome: an uncommon lipid storage disease."

[5].
"Molecular analysis of Chanarin-Dorfman syndrome (CDS) patients: Identification of novel mutations in the ABHD5 gene."

[6].
"High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy."

[7].
"Chanarin-Dorfman syndrome: deficiency in CGI-58, a lipid droplet-bound coactivator of lipase."

[8].
"Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ABHD5."

[9].
"Analysis of lipolytic protein trafficking and interactions in adipocytes."

[10].
"A novel S115G mutation of CGI-58 in a Turkish patient with Dorfman-Chanarin syndrome."
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