Recombinant Human Tetraspan membrane protein of hair cell stereocilia (LHFPL5)

in vitro E.coli expression system

中文名稱：

人LHFPL5重組蛋白
貨號：

CSB-CF844703HU
說明書：

MSDS Datasheet
規格：
來源：

in vitro E.coli expression system
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

基因名：

LHFPL5
Uniprot No.：

Q8TAF8
別名：

LHFPL5; TMHS; LHFPL tetraspan subfamily member 5 protein; Lipoma HMGIC fusion partner-like 5 protein; Tetraspan membrane protein of hair cell stereocilia
種屬：

Homo sapiens (Human)
蛋白長度：

full length protein
表達區域：

1-219
氨基酸序列

MVKLLPAQEAAKIYHTNYVRNSRAVGVMWGTLTICFSVLVMALFIQPYWIGDSVNTPQAG YFGLFSYCVGNVLSSELICKGGPLDFSSIPSRAFKTAMFFVALGMFLIIGSIICFSLFFI CNTATVYKICAWMQLAAATGLMIGCLVYPDGWDSSEVRRMCGEQTGKYTLGHCTIRWAFM LAILSIGDALILSFLAFVLGYRQDKLLPDDYKADGTEEV
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：

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.

產品評價

靶點詳情

功能：

In the inner ear, may be a component of the hair cell's mechanotransduction machinery that functionally couples PCDH15 to the transduction channel. Regulates transducer channel conductance and is required for fast channel adaptation.
基因功能參考文獻：
1. two novel variants in LHFPL5, including a unique 3'-UTR splice site variant that is predicted to impact pre-mRNA splicing and regulation through an extended 3'-UTR. PMID: 30177809
2. These findings provide a novel function of LHFPL2 and a novel genetic basis for distal reproductive tract development; they also emphasize the importance of an additional merging phase for proper reproductive tract development. PMID: 26964900
3. LHFPL5 mutation is associated with dysequilibrium syndrome type 2 and sensorineural hearing loss. PMID: 26437881
4. Five microsatellites in the 6p21.31e22.3 region and screening of the LHFPL5 gene by DNA heteroduplex analysis revealed a novel mutation (c.89dup) in one out of 129 unrelated Tunisian families with autosomal recessive nonsyndromic hearing loss. PMID: 21816241
5. These findings establish the importance of TMHS for normal sound transduction in humans. PMID: 16459341
6. Flies with mutations affecting the diaphanous,forked, and CG12026/TMHS genes displayed significant reductions in the amplitude of sound-evoked potentials compared to wild-type flies PMID: 19102128
7. The authors present an overview of the LHFP gene family in mouse and humans PMID: 15905332
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相關疾?。?/div>
Deafness, autosomal recessive, 67 (DFNB67)
亞細胞定位：

Cell membrane; Multi-pass membrane protein.
蛋白家族：

LHFP family
數據庫鏈接：

HGNC: 21253

OMIM: 609427

KEGG: hsa:222662

STRING: 9606.ENSP00000353346

UniGene: Hs.367947