Recombinant Human Small muscular protein (SMPX)

中文名稱：

人SMPX重組蛋白
貨號：

CSB-EP887043HU
規(guī)格：

￥1836
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)品評價
相關(guān)產(chǎn)品
靶點詳情

產(chǎn)品詳情

純度：

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

SMPX
Uniprot No.：

Q9UHP9
別名：

1010001C09Rik; Csl; DFNX4; RP23-60A1.5; Small muscular protein; SMPX; SMPX_HUMAN; Stretch-responsive skeletal muscle protein
種屬：

Homo sapiens (Human)
蛋白長度：

Full Length
來源：

E.coli
分子量：

36.6kDa
表達區(qū)域：

1-88aa
氨基酸序列

MNMSKQPVSNVRAIQANINIPMGAFRPGAGQPPRRKECTPEVEEGVPPTSDEEKKPIPGAKKLPGPAVNLSEIQNIKSELKYVPKAEQ
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 GST-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：

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

功能：

Plays a role in the regulatory network through which muscle cells coordinate their structural and functional states during growth, adaptation, and repair.
基因功能參考文獻：
1. detected a single nucleotide variation in two male controls with normal hearing, SMPX c.55A>G (p.Asn19Asp), which has been annotated as a rare variant in the Single Nucleotide Polymorphism (dbSNP) (rs759552778) and Exome Aggregation Consortium (ExAC) databases. This study has enriched the mutation spectrum of the SMPX gene PMID: 29559740
2. Results show that SMPX expression is regulated by NOR-1 which binds to SMPX promoter and induces its activity promoting myotube differentiation. PMID: 27181368
3. We report the first SMPX (DFNX4) mutation in a North American family. Our findings contribute to the existing genotypic and phenotypic spectrum of SMPX associated hearing loss. Furthermore, our data suggest that exome sequencing is promising in the genetic diagnosis of hearing loss PMID: 29287879
4. A novel frameshift mutation in SMPX. PMID: 28542515
5. Audiological, medical, and family histories were collected and family members interviewed to compare hearing thresholds and case histories between cases with mutations in SMPX versus POU3F4. PMID: 24687041
6. SMPX is localized predominantly in repetitive double stripes flanking the Z-disc, and not present in nuclei. PMID: 24936977
7. Data indicate founder mutation in exon 3 (c.99delC) of SMPX that cosegregates in two Newfoundland families. PMID: 22911656
8. Demonstrate phenotypic heterogeneity in large family with an X-linked pattern of inherited sensorineural hearing impairment with SMPX mutations. PMID: 21893181
9. Our study identified mutations in SMPX in patients with X-chromosomal hearing impairment and suggested that the stress response of mechanically challenged inner-ear cells might critically depend on SMPX function. PMID: 21549336
10. This study identifies SMPX as a gene in which variation is associated with X-linked deafness and illustrates that NGS is instrumental in the efficient identification of disease-causing variants in unexpected genes. PMID: 21549342
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相關(guān)疾病：

Deafness, X-linked, 4 (DFNX4)
蛋白家族：

SMPX family
組織特異性：

Preferentially and abundantly expressed in heart and skeletal muscle.
數(shù)據(jù)庫鏈接：

HGNC: 11122

OMIM: 300066

KEGG: hsa:23676

STRING: 9606.ENSP00000368808

UniGene: Hs.734084