MFSD8 Antibody, FITC conjugated
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中文名稱：MFSD8兔多克隆抗體, FITC偶聯(lián)
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貨號：CSB-PA844087LC01HU
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規(guī)格：￥880
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其他：
產(chǎn)品詳情
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產(chǎn)品名稱：Rabbit anti-Homo sapiens (Human) MFSD8 Polyclonal antibody
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Uniprot No.：
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基因名：MFSD8
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別名：Ceroid-lipofuscinosis neuronal protein 7 antibody; CLN7 antibody; Major facilitator superfamily domain-containing protein 8 antibody; MFSD8 antibody; MFSD8_HUMAN antibody
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宿主：Rabbit
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反應(yīng)種屬：Human
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免疫原：Recombinant Human Major facilitator superfamily domain-containing protein 8 protein (1-40AA)
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免疫原種屬：Homo sapiens (Human)
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標(biāo)記方式：FITC
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克隆類型：Polyclonal
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抗體亞型：IgG
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純化方式：>95%, Protein G purified
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濃度：It differs from different batches. Please contact us to confirm it.
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保存緩沖液：Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, PH 7.4 -
產(chǎn)品提供形式：Liquid
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儲存條件：Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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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.
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用途：For Research Use Only. Not for use in diagnostic or therapeutic procedures.
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靶點詳情
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功能：May be a carrier that transport small solutes by using chemiosmotic ion gradients.
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基因功能參考文獻(xiàn)：
- 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
- MFSD8 genetic testing should also be considered in patients with Rett like phenotype at onset and negative MECP2 mutation PMID: 25439737
- A mutation in MFSD8, c.472G>A (p.Gly158Ser), segregates with the disease phenotype in variant late infantile neuronal ceroid lipofuscinosis. PMID: 25270050
- In this study, we identified variants in MFSD8 as a novel cause of nonsyndromic autosomal recessive macular dystrophy with central cone involvement. PMID: 25227500
- This study showed that Gene disruption of Mfsd8 provides animal model for CLN7 disease. PMID: 24423645
- Expression and lysosomal targeting of CLN7 are reported. PMID: 20826447
- MFSD8 gene is involved in late-infantile-onset neuronal ceroid lipofuscinose;it was mapped to chromosome 4q28.1-q28.2. PMID: 17564970
- Results describe a novel mutation in the MFSD8 gene, responsible for neuronal ceroid lipofuscinoses, in a consanguineous Egyptian family PMID: 18850119
- Study contributes to a better molecular characterization of Italian NCL cases, and will facilitate medical genetic counseling in such families. PMID: 19177532
- 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
- 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(guān)疾病：Ceroid lipofuscinosis, neuronal, 7 (CLN7); Macular dystrophy with central cone involvement (CCMD)
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亞細(xì)胞定位：Lysosome membrane; Multi-pass membrane protein. Note=Sorting to lysosomes involves tyrosine- and/or dileucine-based motifs.
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蛋白家族：Major facilitator superfamily
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組織特異性：Expressed at very low levels in all tissues tested.
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數(shù)據(jù)庫鏈接：
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