Recombinant Human Protein SERAC1 (SERAC1)

in vitro E.coli expression system

中文名稱：

人SERAC1重組蛋白
貨號：

CSB-CF853443HU
說明書：

MSDS Datasheet
規(guī)格：
來源：

in vitro E.coli expression system
其他：

產(chǎn)品詳情
產(chǎn)品評價
相關產(chǎn)品
靶點詳情

產(chǎn)品詳情

基因名：

SERAC1
Uniprot No.：

Q96JX3
別名：

SERAC1; Protein SERAC1; Serine active site-containing protein 1
種屬：

Homo sapiens (Human)
蛋白長度：

full length protein
表達區(qū)域：

1-654
氨基酸序列

MSLAAYCVICCRRIGTSTSPPKSGTHWRDIRNIIKFTGSLILGGSLFLTYEVLALKKAVT LDTQVVEREKMKSYIYVHTVSLDKGENHGIAWQARKELHKAVRKVLATSAKILRNPFADP FSTVDIEDHECAVWLLLRKSKSDDKTTRLEAVREMSETHHWHDYQYRIIAQACDPKTLIG LARSEESDLRFFLLPPPLPSLKEDSSTEEELRQLLASLPQTELDECIQYFTSLALSESSQ SLAAQKGGLWCFGGNGLPYAESFGEVPSATVEMFCLEAIVKHSEISTHCDKIEANGGLQL LQRLYRLHKDCPKVQRNIMRVIGNMALNEHLHSSIVRSGWVSIMAEAMKSPHIMESSHAA RILANLDRETVQEKYQDGVYVLHPQYRTSQPIKADVLFIHGLMGAAFKTWRQQDSEQAVI EKPMEDEDRYTTCWPKTWLAKDCPALRIISVEYDTSLSDWRARCPMERKSIAFRSNELLR KLRAAGVGDRPVVWISHSMGGLLVKKMLLEASTKPEMSTVINNTRGIIFYSVPHHGSRLA EYSVNIRYLLFPSLEVKELSKDSPALKTLQDDFLEFAKDKNFQVLNFVETLPTYIGSMIK LHVVPVESADLGIGDLIPVDVNHLNICKPKKKDAFLYQRTLQFIREALAKDLEN
Note: The complete sequence may include tag sequence, target protein sequence, linker sequence and extra sequence that is translated with the protein sequence for the purpose(s) of secretion, stability, solubility, etc.
If the exact amino acid sequence of this recombinant protein is critical to your application, please explicitly request the full and complete sequence of this protein before ordering.
蛋白標簽：

N-terminal 10xHis-tagged
產(chǎn)品提供形式：

Liquid or Lyophilized powder Warning: in_array() expects parameter 2 to be array, null given in /www/web/cusabio_cn/public_html/caches/caches_template/default/content/show_product_protein.php on line 662
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.
緩沖液：

Lyophilized from Tris/PBS-based buffer, 6% Trehalose, pH 8.0
儲存條件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保質(zhì)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.
貨期：

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.
注意事項：

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.

產(chǎn)品評價

靶點詳情

功能：

Plays an important role in the phosphatidylglycerol remodeling that is essential for both mitochondrial function and intracellular cholesterol trafficking. May catalyze the remodeling of phosphatidylglycerol and be involved in the transacylation-acylation reaction to produce phosphatidylglycerol-36:1. May be involved in bis(monoacylglycerol)phosphate biosynthetic pathway.
基因功能參考文獻：
1. Two novel SERAC1 mutations were identified in two cases of dystonia, 3-methylglutaconic aciduria and intellectual disability syndrome. PMID: 28778788
2. mutations in the phosphatidylglycerol remodelling enzyme SERAC1 can cause juvenile-onset complicated hereditary spastic paraplegia (cHSP) clusters PMID: 28916646
3. Several different SERAC1 variants were identified from individuals with Deafness-Dystonia syndrome. PMID: 29205472
4. Here we report two new Turkish sibling patients affected with MEGDEL syndrome due to SERAC1 gene mutation. PMID: 27186703
5. Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1. PMID: 23918762
6. During the course of this project a parallel study identified mutations in SERAC1 as the genetic cause of the disease in 15 patients with MEGDEL syndrome, which was compatible with the clinical and biochemical phenotypes of the patient described here. PMID: 23707711
7. Data identify SERAC1 as a key player in the phosphatidylglycerol remodeling that is essential for both mitochondrial function and intracellular cholesterol trafficking. PMID: 22683713
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相關疾病：

3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome (MEGDEL)
亞細胞定位：

Membrane; Single-pass membrane protein. Endoplasmic reticulum. Mitochondrion. Note=Localizes at the endoplasmic reticulum and at the endoplasmic reticulum-mitochondria interface.
蛋白家族：

SERAC1 family
組織特異性：

Widely expressed, with predominant expression in fetal skeletal muscle and adult brain. In the brain, highest levels are found in the frontal and occipital cortices, cerebellum and hippocampus.
數(shù)據(jù)庫鏈接：

HGNC: 21061

OMIM: 614725

KEGG: hsa:84947

STRING: 9606.ENSP00000356071

UniGene: Hs.154706