Recombinant Human Protein ARV1 (ARV1)

in vitro E.coli expression system

中文名称：

Recombinant Human Protein ARV1(ARV1)
货号：

CSB-CF867134HU
规格：
来源：

in vitro E.coli expression system
其他：

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基因名：

ARV1
Uniprot No.：

Q9H2C2
别名：

ARV1; HT035; Protein ARV1; hARV1
种属：

Homo sapiens (Human)
蛋白长度：

full length protein
表达区域：

1-271
氨基酸序列

MGNGGRSGLQQGKGNVDGVAATPTAASASCQYRCIECNQEAKELYRDYNHGVLKITICKS CQKPVDKYIEYDPVIILINAILCKAQAYRHILFNTQINIHGKLCIFCLLCEAYLRWWQLQ DSNQNTAPDDLIRYAKEWDFYRMFAIAALEQTAYFIGIFTFLWVERPMTAKKKPNFILLL KALLLSSYGKLLLIPAVIWEHDYTSVCLKLIKVFVLTSNFQAIRVTLNINRKLSFLAVLS GLLLESIMVYFFQSMEWDVGSDYAIFKSQDF
Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
蛋白标签：

N-terminal 10xHis-tagged
产品提供形式：

Liquid or Lyophilized powder
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
缓冲液：

Lyophilized from Tris/PBS-based buffer, 6% Trehalose, pH 8.0
储存条件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保质期：

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
货期：

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
注意事项：

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet & COA：

Please contact us to get it.

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功能：

Plays a role as a mediator in the endoplasmic reticulum (ER) cholesterol and bile acid homeostasis. Participates in sterol transport out of the ER and distribution into plasma membranes.
基因功能参考文献：
1. In contrast to wild type human ARV1, neither variant expressed detectable levels of protein in mammalian cells. Mice with a neuronal deletion of Arv1 recapitulated the human phenotype, exhibiting seizures and a severe survival defect in adulthood. Our data support ARV1 deficiency as a cause of autosomal recessive epileptic encephalopathy PMID: 27270415
2. A novel function for Arv1 in regulation of cell division through promotion of the contractile actomyosin ring, which is independent of its lipid transporter activity. PMID: 27104745
3. Overexpression of human ARV1 could rescue the phenotypes associated with GPI anchor synthesis defect in the yeast arv1Delta mutant. Arv1 function in GPI biosynthesis may be conserved in all eukaryotes, from yeast to humans. PMID: 26460143
4. These results implicate ARV1 as a protective factor in lipotoxic diseases due to modulation of fatty acid metabolism. PMID: 24273168
5. Arv1p has a role in sterol movement from the ER and in the ensuing regulation of hepatic cholesterol and bile acid metabolism PMID: 20663892
6. ARV1 plays a role in sphingolipid metabolism and complements yeast ARV1 PMID: 12145310
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相关疾病：

Epileptic encephalopathy, early infantile, 38 (EIEE38)
亚细胞定位：

Endoplasmic reticulum membrane; Multi-pass membrane protein.
蛋白家族：

ARV1 family
组织特异性：

Ubiquitous. Highly expressed in liver and adipose.
数据库链接：

HGNC: 29561

OMIM: 611647

KEGG: hsa:64801

STRING: 9606.ENSP00000312458

UniGene: Hs.275736

Recombinant Human Protein ARV1 (ARV1)

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