Recombinant Human Transmembrane protein 126A (TMEM126A)

in vitro E.coli expression system

中文名稱：

人TMEM126A重組蛋白
貨號：

CSB-CF023692HU
規(guī)格：
來源：

in vitro E.coli expression system
其他：

產(chǎn)品詳情
產(chǎn)品評價
相關(guān)產(chǎn)品
靶點詳情

產(chǎn)品詳情

基因名：

TMEM126A
Uniprot No.：

Q9H061
別名：

TMEM126A; Transmembrane protein 126A
種屬：

Homo sapiens (Human)
蛋白長度：

full length protein
表達區(qū)域：

1-195
氨基酸序列

MENHKSNNKENITIVDISRKINQLPEAERNLLENGSVYVGLNAALCGLIANSLFRRILNV TKARIAAGLPMAGIPFLTTDLTYRCFVSFPLNTGDLDCETCTITRSGLTGLVIGGLYPVF LAIPVNGGLAARYQSALLPHKGNILSYWIRTSKPVFRKMLFPILLQTMFSAYLGSEQYKL LIKALQLSEPGKEIH
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.
蛋白標簽：

N-terminal 10xHis-tagged
產(chǎn)品提供形式：

Liquid or Lyophilized powder
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：

Lyophilized from Tris/PBS-based buffer, 6% Trehalose, pH 8.0
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(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：

Basically, we can dispatch the products out in 1-3 working days after receiving your orders. 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 & COA：

Please contact us to get it.

產(chǎn)品評價

靶點詳情

基因功能參考文獻：
1. TMEM126A is a mitochondrial located mRNA (MLR) that may be translated in the mitochondrial surface and the protein is subsequently imported to the inner membrane PMID: 23500070
2. The p.Arg55X mutation in TMEM126A, homozygous in all affected siblings and heterozygous in both unaffected parents, has been found in a Moroccan family with autosomal recessive optic atrophy. PMID: 22815638
3. The first detailed phenotyping of patients with autosomal recessive TMEM126A-associated optic atrophy and auditory neuropathy, is described. PMID: 20405026
4. TMEM126A encodes a transmembrane mitochondrial protein of unknown function, supporting the view that mitochondrial dysfunction may be a hallmark of inherited optic neuropathies including isolated autosomal-recessive forms. PMID: 19327736
相關(guān)疾病：

Optic atrophy 7 with or without auditory neuropathy (OPA7)
亞細胞定位：

Mitochondrion inner membrane; Multi-pass membrane protein.
蛋白家族：

TMEM126 family
組織特異性：

Strongly expressed in brain, cerebellum, skeletal muscle, testis. High expression also found in fetal brain, fetal retinal pigmentary epithelium, and fetal retina. Highly expressed in retinal ganglion cells.
數(shù)據(jù)庫鏈接：

HGNC: 25382

OMIM: 612988

KEGG: hsa:84233

STRING: 9606.ENSP00000306887

UniGene: Hs.533725