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REEP1 Antibody

  • 货号：
    CSB-PA019540GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q9H902
  • 基因名：
    REEP1
  • 别名：
    REEP1; C2orf23; SPG31; Receptor expression-enhancing protein 1; Spastic paraplegia 31 protein
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human REEP1
  • 免疫原种属：
    Homo sapiens (Human)
  • 抗体亚型：
    IgG
  • 纯化方式：
    Antigen Affinity purified
  • 浓度：
    It differs from different batches. Please contact us to confirm it.
  • 保存缓冲液：
    PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
  • 产品提供形式：
    Liquid
  • 应用范围：
    ELISA,WB
  • Protocols：
  • 储存条件：
    Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
  • 货期：
    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.

产品评价

靶点详情

  • 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.
  • 基因功能参考文献：
    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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  • 相关疾病：
    Spastic paraplegia 31, autosomal dominant (SPG31); Neuronopathy, distal hereditary motor, 5B (HMN5B)
  • 亚细胞定位：
    Membrane. Mitochondrion membrane; Multi-pass membrane protein. Endoplasmic reticulum.
  • 蛋白家族：
    DP1 family
  • 组织特异性：
    Expressed in circumvallate papillae and testis.
  • 数据库链接：

    HGNC: 25786

    OMIM: 609139

    KEGG: hsa:65055

    STRING: 9606.ENSP00000438346

    UniGene: Hs.368884