Recombinant Human Major facilitator superfamily domain-containing protein 8 (MFSD8), partial

中文名稱：

人MFSD8重組蛋白
貨號：

CSB-EP844087HU1
規格：

￥1836
圖片：
(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

純度：

Greater than 90% as determined by SDS-PAGE.
基因名：

MFSD8
Uniprot No.：

Q8NHS3
別名：

Ceroid-lipofuscinosis neuronal protein 7; CLN7; Major facilitator superfamily domain-containing protein 8; MFSD8; MFSD8_HUMAN
種屬：

Homo sapiens (Human)
蛋白長度：

Partial
來源：

E.coli
分子量：

34.8kDa
表達區域：

1-40aa
氨基酸序列

MAGLRNESEQEPLLGDTPGSREWDILETEEHYKSRWRSIR
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 6xHis-GST-tagged
產品提供形式：

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.
緩沖液：

If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.
Note: If you have any special requirement for the glycerol content, please remark when you place the order.
If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose.
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.

產品評價

靶點詳情

功能：

May be a carrier that transport small solutes by using chemiosmotic ion gradients.
基因功能參考文獻：
1. This study highlights a hierarchy of MFSD8 variant severity, predicting three consequences of mutation: (1) nonsyndromic localized maculopathy, (2) nonsyndromic widespread retinopathy, or (3) syndromic neurological disease. PMID: 28586915
2. MFSD8 genetic testing should also be considered in patients with Rett like phenotype at onset and negative MECP2 mutation PMID: 25439737
3. A mutation in MFSD8, c.472G>A (p.Gly158Ser), segregates with the disease phenotype in variant late infantile neuronal ceroid lipofuscinosis. PMID: 25270050
4. In this study, we identified variants in MFSD8 as a novel cause of nonsyndromic autosomal recessive macular dystrophy with central cone involvement. PMID: 25227500
5. This study showed that Gene disruption of Mfsd8 provides animal model for CLN7 disease. PMID: 24423645
6. Expression and lysosomal targeting of CLN7 are reported. PMID: 20826447
7. MFSD8 gene is involved in late-infantile-onset neuronal ceroid lipofuscinose;it was mapped to chromosome 4q28.1-q28.2. PMID: 17564970
8. Results describe a novel mutation in the MFSD8 gene, responsible for neuronal ceroid lipofuscinoses, in a consanguineous Egyptian family PMID: 18850119
9. Study contributes to a better molecular characterization of Italian NCL cases, and will facilitate medical genetic counseling in such families. PMID: 19177532
10. CLN7/MFSD8 defects are not restricted to the Turkish population, as initially anticipated, but are a relatively common cause of NCL in different populations. PMID: 19201763
11. Data show that neuronal ceroid lipofuscinosis in a Saudi family is due to a homozygous novel mutation in the most recently described NCL gene (MFSD8). PMID: 19277732
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相關疾病：

Ceroid lipofuscinosis, neuronal, 7 (CLN7); Macular dystrophy with central cone involvement (CCMD)
亞細胞定位：

Lysosome membrane; Multi-pass membrane protein. Note=Sorting to lysosomes involves tyrosine- and/or dileucine-based motifs.
蛋白家族：

Major facilitator superfamily
組織特異性：

Expressed at very low levels in all tissues tested.
數據庫鏈接：

HGNC: 28486

OMIM: 610951

KEGG: hsa:256471

STRING: 9606.ENSP00000296468

UniGene: Hs.480701