REEP1 Antibody

說明書

中文名稱：

REEP1兔多克隆抗體
貨號：

CSB-PA019540GA01HU
規格：

￥3,900
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

Uniprot No.：

Q9H902
基因名：

REEP1
別名：

REEP1; C2orf23; SPG31; Receptor expression-enhancing protein 1; Spastic paraplegia 31 protein
宿主：

Rabbit
反應種屬：

Human,Mouse,Rat
免疫原：

Human REEP1
免疫原種屬：

Homo sapiens (Human)
抗體亞型：

IgG
純化方式：

Antigen Affinity purified
濃度：

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

PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
產品提供形式：

Liquid
應用范圍：

ELISA,WB
Protocols：

ELISA Protocol
Western Blotting (WB) Protocol
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：

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.
基因功能參考文獻：
1. This study demonstrated that REEP1 gene mutation associated with hereditary spastic paraplegias in group of Polish patients PMID: 26671083
2. we show that REEP1 facilitates endoplasmic reticulum mitochondria interactions, a function diminished by disease-associated mutations. PMID: 26201691
3. Nonsense variants in REEP1 causing haploinsufficiency/loss of function are responsible for autosomal dominant hereditary spastic paraplegia (HSP)-type SPG31. PMID: 24986827
4. Functional mutation analysis reveal that distinct pathomechanisms are associated with REEP1 mutations and shed new light on its probable functions. PMID: 24478229
5. 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
6. REEP1 is a neuron-specific, membrane-binding, and membrane curvature-inducing protein that resides in the endoplasmic reticulum. PMID: 24051375
7. A novel REEP1 mutation is identified in a cohort of patients with upper motor neuron syndrome. PMID: 23108492
8. 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
9. Identification of 12 different heterozygous REEP1 mutations, including two exon deletions, associated with either a pure or a complex phenotype. PMID: 21618648
10. previously unreported autosomal dominant mutations in the REEP1 gene in hereditary spastic paraplegia PMID: 20718791
11. 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
12. Receptor expression-enhancing protein 1 gene (SPG31) mutations are rare in Chinese Han patients with hereditary spastic paraplegia. PMID: 19781397
13. RTP and REEP gene expression in human circumvallate papillae and testis, both of which are sites of taste receptor gene expression. PMID: 16720576
14. REEP1 is widely expressed and localizes to mitochondria, which underlines the importance of mitochondrial function in neurodegenerative disease. PMID: 16826527
15. 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
16. Our results confirm the previously observed mutation range of 3% to 6.5%, respectively, and they widen the spectrum of REEP1 mutations PMID: 18644145
17. 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
18. A novel splice-site mutation (REEP1 c417+1g>a) was identified in chiease family of ADHSP. PMID: 19072839
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相關疾病：

Spastic paraplegia 31, autosomal dominant (SPG31); Neuronopathy, distal hereditary motor, 5B (HMN5B)
亞細胞定位：

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.
數據庫鏈接：

HGNC: 25786

OMIM: 609139

KEGG: hsa:65055

STRING: 9606.ENSP00000438346

UniGene: Hs.368884

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