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AFG3L2 Antibody

  • 货号：
    CSB-PA001417GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q9Y4W6
  • 基因名：
    AFG3L2
  • 别名：
    AFG3 (ATPase family gene 3; yeast) like 2 antibody; AFG3 ATPase family gene 3 like 2 (yeast) antibody; AFG3 ATPase family gene 3 like 2 antibody; AFG3 like protein 2 antibody; AFG3-like protein 2 antibody; AFG32_HUMAN antibody; AFG3L2 antibody; ATPase family gene 3 like 2 antibody; ATPase family gene 3 yeast antibody; EC 3.4.24.- antibody; FLJ25993 antibody; Paraplegin like protein antibody; Paraplegin-like protein antibody; SCA28 antibody; Spinocerebellar ataxia 28 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human AFG3L2
  • 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 0.1% 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,IHC,IF
  • 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：
    ATP-dependent protease which is essential for axonal and neuron development. In neurons, mediates degradation of SMDT1/EMRE before its assembly with the uniporter complex, limiting the availability of SMDT1/EMRE for MCU assembly and promoting efficient assembly of gatekeeper subunits with MCU. Required for paraplegin (SPG7) maturation. After its cleavage by mitochondrial-processing peptidase (MPP), it converts paraplegin into a proteolytically active mature form. Required for the maturation of PINK1 into its 52kDa mature form after its cleavage by mitochondrial-processing peptidase (MPP). Involved in the regulation of OMA1-dependent processing of OPA1.
  • 基因功能参考文献：
    1. Deletion of AFG3L2 associated with spinocerebellar ataxia type 28 in the context of multiple genomic anomalies. PMID: 25251419
    2. AOA2 with myoclonus associated with mutations in SETX and AFG3L2 PMID: 25927548
    3. This study that AFG3L2 mutations are another important cause, albeit rare, of a late-onset ataxic PEO phenotype due to a disturbance of mtDNA maintenance. PMID: 25420100
    4. StAR proteolysis is executed by at least 2 mitochondrial proteases, the matrix LON protease and the inner membrane complexes of the metalloproteases AFG3L2 and AFG3L2:SPG7/paraplegin. PMID: 24422629
    5. Here, we report on a novel AFG3L2 mutation in a patient with slowly progressive ataxia and a positive family history. PMID: 24293060
    6. Identification of a partial AFG3L2 deletion and subsequent functional studies reveal loss of function as the most likely disease mechanism. PMID: 24814845
    7. Both full-length and truncated COX1 proteins physically interact with AFG3L2. PMID: 22252130
    8. These findings expand the phenotype associated with AFG3L2 mutations and suggest that AFG3L2-related disease should be considered in the differential diagnosis of spastic ataxias. PMID: 22022284
    9. The mutations of SCA28 are associated with amino acid changes in evolutionarily conserved residues of the alleged SCA28 gene, and indicate SCA28 as the sixth recognized SCA genotype caused by point mutations. PMID: 21827917
    10. We further confirm both the involvement of AFG3L2 gene in Spinocerebellar ataxia type 28 (SCA28) and the presence of a mutational hotspot in exons 15-16. PMID: 20725928
    11. in spinocerebellar ataxia type 28 patients study found novel missense mutation at an evolutionarily conserved amino-acid position; amino-acid exchange p.E700K was detected in a 4-generation family and was not observed in chromosomes of controls PMID: 20354562
    12. work identifies AFG3L2 as a novel cause of dominant neurodegenerative disease and indicates a previously unknown role for this component of the mitochondrial protein quality control machinery in protecting the human cerebellum against neurodegeneration. PMID: 20208537
    13. An intersubunit signaling network coordinates ATP hydrolysis by m-AAA protease AGG3L2. PMID: 19748354

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  • 相关疾病：
    Spinocerebellar ataxia 28 (SCA28); Spastic ataxia 5, autosomal recessive (SPAX5)
  • 亚细胞定位：
    Mitochondrion. Mitochondrion inner membrane; Multi-pass membrane protein.
  • 蛋白家族：
    AAA ATPase family; Peptidase M41 family
  • 组织特异性：
    Ubiquitous. Highly expressed in the cerebellar Purkinje cells.
  • 数据库链接：

    HGNC: 315

    OMIM: 604581

    KEGG: hsa:10939

    STRING: 9606.ENSP00000269143

    UniGene: Hs.726355