TMLHE Antibody
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中文名稱：TMLHE兔多克隆抗體
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貨號：CSB-PA023908GA01HU
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規格：￥3,900
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其他：
產品詳情
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Uniprot No.：
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基因名：TMLHE
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別名：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
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宿主：Rabbit
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反應種屬：Human,Mouse,Rat
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免疫原：Human TMLHE
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免疫原種屬：Homo sapiens (Human)
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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 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
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產品提供形式：Liquid
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應用范圍：ELISA,WB
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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.
產品評價
相關產品
靶點詳情
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功能：Converts trimethyllysine (TML) into hydroxytrimethyllysine (HTML).
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基因功能參考文獻：
- 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
- 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
- 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
- Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE. PMID: 21865298
- C-terminal region of trimethyllysine hydroxylase, epsilon contains the main determinants for its enzymatic activity including a key H389 residue PMID: 15754339
- 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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相關疾病：Autism, X-linked 6 (AUTSX6)
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亞細胞定位：Mitochondrion matrix.
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蛋白家族：Gamma-BBH/TMLD family
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組織特異性：All isoforms, but isoform 8, are widely expressed in adult and fetal tissues. Isoform 8 is restricted to heart and skeletal muscle.
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數據庫鏈接：
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