MFSD8 Antibody, FITC conjugated

說明書

中文名稱：

MFSD8兔多克隆抗體, FITC偶聯
貨號：

CSB-PA844087LC01HU
規格：

￥880
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

產品名稱：

Rabbit anti-Homo sapiens (Human) MFSD8 Polyclonal antibody
Uniprot No.：

Q8NHS3
基因名：

MFSD8
別名：

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

Rabbit
反應種屬：

Human
免疫原：

Recombinant Human Major facilitator superfamily domain-containing protein 8 protein (1-40AA)
免疫原種屬：

Homo sapiens (Human)
標記方式：

FITC
克隆類型：

Polyclonal
抗體亞型：

IgG
純化方式：

>95%, Protein G purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, PH 7.4
產品提供形式：

Liquid
儲存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期：

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
用途：

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

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

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