REEP1 Antibody
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中文名稱：REEP1兔多克隆抗體
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貨號：CSB-PA862045DSR1HU
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規(guī)格：￥440
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圖片：
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Western blot
All lanes: REEP1 antibody at 5.84 μg/ml + Mouse gonadal tissue
Secondary
Goat polyclonal to rabbit IgG at 1/10000 dilution
Predicted band size: 23, 19, 17 kDa
Observed band size: 23, 80 kDa -
Immunohistochemistry of paraffin-embedded human?testis tissue using CSB-PA862045DSR1HU at dilution of 1:100 -
Immunohistochemistry of paraffin-embedded human brain tissue using CSB-PA862045DSR1HU at dilution of 1:100
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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) REEP1 Polyclonal antibody
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Uniprot No.：
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基因名：REEP1
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別名：REEP1; C2orf23; SPG31; Receptor expression-enhancing protein 1; Spastic paraplegia 31 protein
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宿主：Rabbit
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反應(yīng)種屬：Human, Mouse
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免疫原：Recombinant Human Receptor expression-enhancing protein 1 protein (101-201AA)
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免疫原種屬：Homo sapiens (Human)
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標(biāo)記方式：Non-conjugated
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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：Antigen Affinity 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：PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
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產(chǎn)品提供形式：Liquid
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應(yīng)用范圍：ELISA, WB, IHC
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推薦稀釋比：
Application Recommended Dilution WB 1:1000-1:5000 IHC 1:20-1:200 -
Protocols：
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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.
產(chǎn)品評價
相關(guān)產(chǎn)品
靶點詳情
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功能：Required for endoplasmic reticulum (ER) network formation, shaping and remodeling; it links ER tubules to the cytoskeleton. May also enhance the cell surface expression of odorant receptors. May play a role in long-term axonal maintenance.
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基因功能參考文獻(xiàn)：
- This study demonstrated that REEP1 gene mutation associated with hereditary spastic paraplegias in group of Polish patients PMID: 26671083
- we show that REEP1 facilitates endoplasmic reticulum mitochondria interactions, a function diminished by disease-associated mutations. PMID: 26201691
- Nonsense variants in REEP1 causing haploinsufficiency/loss of function are responsible for autosomal dominant hereditary spastic paraplegia (HSP)-type SPG31. PMID: 24986827
- Functional mutation analysis reveal that distinct pathomechanisms are associated with REEP1 mutations and shed new light on its probable functions. PMID: 24478229
- Expression of the REEP1/REEP2 subfamily appears to be restricted to neuronal and neuronal-like exocytotic tissues, consistent with neuronally restricted symptoms of REEP1 genetic disorders. PMID: 24355597
- REEP1 is a neuron-specific, membrane-binding, and membrane curvature-inducing protein that resides in the endoplasmic reticulum. PMID: 24051375
- A novel REEP1 mutation is identified in a cohort of patients with upper motor neuron syndrome. PMID: 23108492
- Whole-exome sequencing of two affected individuals revealed a single candidate variant within the linking regions, i.e., a splice-site alteration in REEP1 PMID: 22703882
- Identification of 12 different heterozygous REEP1 mutations, including two exon deletions, associated with either a pure or a complex phenotype. PMID: 21618648
- previously unreported autosomal dominant mutations in the REEP1 gene in hereditary spastic paraplegia PMID: 20718791
- Hereditary spastic paraplegias(HSP) proteins atlastin-1, spastin, and REEP1 interact within the tubularER membrane in corticospinal neurons to coordinate ER shaping and microtubule dynamics. PMID: 20200447
- Receptor expression-enhancing protein 1 gene (SPG31) mutations are rare in Chinese Han patients with hereditary spastic paraplegia. PMID: 19781397
- RTP and REEP gene expression in human circumvallate papillae and testis, both of which are sites of taste receptor gene expression. PMID: 16720576
- REEP1 is widely expressed and localizes to mitochondria, which underlines the importance of mitochondrial function in neurodegenerative disease. PMID: 16826527
- Mutations in the receptor expression enhancing protein 1 (REEP1) have recently been reported to cause autosomal dominant hereditary spastic paraplegia type SPG31. We identified 13 novel and 2 known REEP1 mutations in 16 familial and sporadic patients. PMID: 18321925
- Our results confirm the previously observed mutation range of 3% to 6.5%, respectively, and they widen the spectrum of REEP1 mutations PMID: 18644145
- Results identify the frequency of REEP1 mutations in both autosomal dominant HSP (ADHSP) and sporadic spastic paraparesis (SSP) and analyse the genotype/phenotype correlation of mutations so far described in REEP1. PMID: 19034539
- A novel splice-site mutation (REEP1 c417+1g>a) was identified in chiease family of ADHSP. PMID: 19072839
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相關(guān)疾?。?/div>Spastic paraplegia 31, autosomal dominant (SPG31); Neuronopathy, distal hereditary motor, 5B (HMN5B)亞細(xì)胞定位：Membrane. Mitochondrion membrane; Multi-pass membrane protein. Endoplasmic reticulum.蛋白家族：DP1 family組織特異性：Expressed in circumvallate papillae and testis.數(shù)據(jù)庫鏈接：
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