Recombinant Human Trimethyllysine dioxygenase, mitochondrial (TMLHE)

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中文名稱：

人TMLHE重組蛋白
貨號(hào)：

CSB-EP023908HU
說(shuō)明書(shū)：

MSDS Datasheet
規(guī)格：

￥1344
圖片：
(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
其他：

產(chǎn)品詳情
產(chǎn)品評(píng)價(jià)
相關(guān)產(chǎn)品
靶點(diǎn)詳情

產(chǎn)品詳情

純度：

Greater than 90% as determined by SDS-PAGE.
基因名：

TMLHE
Uniprot No.：

Q9NVH6
別名：

AUTSX6; BBOX2; Butyrobetaine (gamma) 2 oxoglutarate dioxygenase (gamma butyrobetaine hydroxylase) 2; Epsilon-trimethyllysine 2-oxoglutarate dioxygenase; Epsilon-trimethyllysine hydroxylase; FLJ10727; TML dioxygenase; TML hydroxylase; TML-alpha-ketoglutarate dioxygenase; TMLD; TMLH; TMLH_HUMAN; TMLHE; TMLHED; Trimethyllysine dioxygenase, mitochondrial; Trimethyllysine hydroxylase epsilon; XAP130
種屬：

Homo sapiens (Human)
蛋白長(zhǎng)度：

Full Length of Mature Protein
來(lái)源：

E.coli
分子量：

46.1kDa
表達(dá)區(qū)域：

16-376aa
氨基酸序列

LLKGGVIYPALPQPNFKSLLPLAVHWHHTASKSLTCAWQQHEDHFELKYANTVMRFDYVWLRDHCRSASCYNSKTHQRSLDTASVDLCIKPKTIRLDETTLFFTWPDGHVTKYDLNWLVKNSYEGQKQKVIQPRILWNAEIYQQAQVPSVDCQSFLETNEGLKKFLQNFLLYGIAFVENVPPTQEHTEKLAERISLIRETIYGRMWYFTSDFSRGDTAYTKLALDRHTDTTYFQEPCGIQVFHCLKHEGTGGRTLLVDGFYAAEQVLQKAPEEFELLSKVPLKHEYIEDVGECHNHMIGIGPVLNIYPWNKELYLIRLFKEKQNTVNRQWNSSLQCDIPERILTYRHFVSGTSIEHRGSLI
Note: The complete sequence may include tag sequence, target protein sequence, linker sequence and extra sequence that is translated with the protein sequence for the purpose(s) of secretion, stability, solubility, etc.
If the exact amino acid sequence of this recombinant protein is critical to your application, please explicitly request the full and complete sequence of this protein before ordering.
蛋白標(biāo)簽：

N-terminal 6xHis-tagged
產(chǎn)品提供形式：

Liquid or Lyophilized powder Warning: in_array() expects parameter 2 to be array, null given in /www/web/cusabio_cn/public_html/caches/caches_template/default/content/show_product_protein.php on line 662
Note: We will preferentially ship the format that we have in stock, however, if you have any special requirement for the format, please remark your requirement when placing the order, we will prepare according to your demand.
緩沖液：

If the delivery form is liquid, the default storage buffer is Tris/PBS-based buffer, 5%-50% glycerol.
Note: If you have any special requirement for the glycerol content, please remark when you place the order.
If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose.
儲(chǔ)存條件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保質(zhì)期：

The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
貨期：

3-7 business days
注意事項(xiàng)：

Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Datasheet & COA：

Please contact us to get it.

產(chǎn)品評(píng)價(jià)

靶點(diǎn)詳情

功能：

Converts trimethyllysine (TML) into hydroxytrimethyllysine (HTML).
基因功能參考文獻(xiàn)：
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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相關(guān)疾病：

Autism, X-linked 6 (AUTSX6)
亞細(xì)胞定位：

Mitochondrion matrix.
蛋白家族：

Gamma-BBH/TMLD family
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.
數(shù)據(jù)庫(kù)鏈接：

HGNC: 18308

OMIM: 300777

KEGG: hsa:55217

STRING: 9606.ENSP00000335261

UniGene: Hs.133321