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TMLHE Antibody

  • 货号：
    CSB-PA023908GA01HU
  • 规格：
    ￥3,900
  • 其他：

产品详情

  • Uniprot No.：
    Q9NVH6
  • 基因名：
    TMLHE
  • 别名：
    AUTSX6 antibody; BBOX2 antibody; Butyrobetaine (gamma) 2 oxoglutarate dioxygenase (gamma butyrobetaine hydroxylase) 2 antibody; Epsilon-trimethyllysine 2-oxoglutarate dioxygenase antibody; Epsilon-trimethyllysine hydroxylase antibody; FLJ10727 antibody; TML dioxygenase antibody; TML hydroxylase antibody; TML-alpha-ketoglutarate dioxygenase antibody; TMLD antibody; TMLH antibody; TMLH_HUMAN antibody; TMLHE antibody; TMLHED antibody; Trimethyllysine dioxygenase, mitochondrial antibody; Trimethyllysine hydroxylase epsilon antibody; XAP130 antibody
  • 宿主：
    Rabbit
  • 反应种属：
    Human,Mouse,Rat
  • 免疫原：
    Human TMLHE
  • 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
  • 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：
    Converts trimethyllysine (TML) into hydroxytrimethyllysine (HTML).
  • 基因功能参考文献：
    1. Case Report: complex recombination with deletion in the F8 and duplication in the TMLHE mediated by int22h copies during early embryogenesis in proband's mother. PMID: 28492696
    2. Study found 3 mutations in TMLHE to be associated with autism spectrum disorder, c.229C>T/p.Arg77X, c.730G>C/p.Asp244His, and c.1107G>T/p.Glu369Asp. PMID: 23092983
    3. TMLHE deficiency is common in control males and was not significantly increased in frequency in probands from simplex autism families, however, it was 2.82-fold more frequent in probands from male-male multiplex autism families. PMID: 22566635
    4. Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. PMID: 21865298
    5. C-terminal region of trimethyllysine hydroxylase, epsilon contains the main determinants for its enzymatic activity including a key H389 residue PMID: 15754339
    6. By 5' and 3' RACE, we identified and mapped two alternative 5' TMLH first exons and seven alternative 3'-splice variants. PMID: 17408883

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  • 相关疾病：
    Autism, X-linked 6 (AUTSX6)
  • 亚细胞定位：
    Mitochondrion matrix.
  • 蛋白家族：
    Gamma-BBH/TMLD family
  • 组织特异性：
    All isoforms, but isoform 8, are widely expressed in adult and fetal tissues. Isoform 8 is restricted to heart and skeletal muscle.
  • 数据库链接：

    HGNC: 18308

    OMIM: 300777

    KEGG: hsa:55217

    STRING: 9606.ENSP00000335261

    UniGene: Hs.133321