Recombinant Human Trimethyllysine dioxygenase, mitochondrial (TMLHE)

中文名稱：

人TMLHE重組蛋白
貨號：

CSB-YP865148HU
說明書：

MSDS Datasheet
規格：
來源：

Yeast
其他：

中文名稱：

人TMLHE重組蛋白
貨號：

CSB-EP865148HU
說明書：

MSDS Datasheet
規格：
來源：

E.coli
其他：

中文名稱：

人TMLHE重組蛋白
貨號：

CSB-EP865148HU-B
說明書：

MSDS Datasheet
規格：
來源：

E.coli
共軛：

Avi-tag Biotinylated
E. coli biotin ligase (BirA) is highly specific in covalently attaching biotin to the 15 amino acid AviTag peptide. This recombinant protein was biotinylated in vivo by AviTag-BirA technology, which method is BriA catalyzes amide linkage between the biotin and the specific lysine of the AviTag.
其他：

中文名稱：

人TMLHE重組蛋白
貨號：

CSB-BP865148HU
說明書：

MSDS Datasheet
規格：
來源：

Baculovirus
其他：

中文名稱：

人TMLHE重組蛋白
貨號：

CSB-MP865148HU
說明書：

MSDS Datasheet
規格：
來源：

Mammalian cell
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

純度：

>85% (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)
蛋白長度：

Full Length of Mature Protein
表達區域：

16-421
氨基酸序列

LLKGG VIYPALPQPN FKSLLPLAVH WHHTASKSLT CAWQQHEDHF ELKYANTVMR FDYVWLRDHC RSASCYNSKT HQRSLDTASV DLCIKPKTIR LDETTLFFTW PDGHVTKYDL NWLVKNSYEG QKQKVIQPRI LWNAEIYQQA QVPSVDCQSF LETNEGLKKF LQNFLLYGIA FVENVPPTQE HTEKLAERIS LIRETIYGRM WYFTSDFSRG DTAYTKLALD RHTDTTYFQE PCGIQVFHCL KHEGTGGRTL LVDGFYAAEQ VLQKAPEEFE LLSKVPLKHE YIEDVGECHN HMIGIGPVLN IYPWNKELYL IRYNNYDRAV INTVPYDVVH RWYTAHRTLT IELRRPENEF WVKLKPGRVL FIDNWRVLHG RECFTGYRQL CGCYLTRDDV LNTARLLGLQ A
蛋白標簽：

Tag?type?will?be?determined?during?the?manufacturing?process.

The tag type will be determined during production process. If you have specified tag type, please tell us and we will develop the specified tag preferentially.
產品提供形式：

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.
復溶：

We recommend that this vial be briefly centrifuged prior to opening to bring the contents to the bottom. Please reconstitute protein in deionized sterile water to a concentration of 0.1-1.0 mg/mL.We recommend to add 5-50% of glycerol (final concentration) and aliquot for long-term storage at -20℃/-80℃. Our default final concentration of glycerol is 50%. Customers could use it as reference.
儲存條件：

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

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：

Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
Note: All of our proteins are default shipped with normal blue ice packs, if you request to ship with dry ice, please communicate with us in advance and extra fees will be charged.
注意事項：

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

Please contact us to get it.

產品評價

靶點詳情

功能：

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

Autism, X-linked 6 (AUTSX6)
亞細胞定位：

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.
數據庫鏈接：

HGNC: 18308

OMIM: 300777

KEGG: hsa:55217

STRING: 9606.ENSP00000335261

UniGene: Hs.133321