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

Code CSB-CF844703HU
MSDS
Size Pls inquire
Source in vitro E.coli expression system
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Product Details

Target Names
LHFPL5
Uniprot No.
Alternative Names
LHFPL5; TMHS; LHFPL tetraspan subfamily member 5 protein; Lipoma HMGIC fusion partner-like 5 protein; Tetraspan membrane protein of hair cell stereocilia
Species
Homo sapiens (Human)
Expression Region
1-219
Target Protein Sequence
MVKLLPAQEAAKIYHTNYVRNSRAVGVMWGTLTICFSVLVMALFIQPYWIGDSVNTPQAG YFGLFSYCVGNVLSSELICKGGPLDFSSIPSRAFKTAMFFVALGMFLIIGSIICFSLFFI CNTATVYKICAWMQLAAATGLMIGCLVYPDGWDSSEVRRMCGEQTGKYTLGHCTIRWAFM LAILSIGDALILSFLAFVLGYRQDKLLPDDYKADGTEEV
Protein Length
full length protein
Tag Info
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.
Form
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.
Buffer before Lyophilization
Tris/PBS-based buffer, 6% Trehalose, pH 8.0
Reconstitution
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.
Troubleshooting and FAQs
Storage Condition
Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
Shelf Life
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.
Lead Time
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.
Notes
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.

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Target Background

Function
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.
Gene References into Functions
  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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Involvement in disease
Deafness, autosomal recessive, 67 (DFNB67)
Subcellular Location
Cell membrane; Multi-pass membrane protein.
Protein Families
LHFP family
Database Links

HGNC: 21253

OMIM: 609427

KEGG: hsa:222662

STRING: 9606.ENSP00000353346

UniGene: Hs.367947

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