Recombinant Human Xylosyltransferase 2 (XYLT2), partial

中文名稱(chēng)：

人XYLT2重組蛋白
貨號(hào)：

CSB-YP884439HU
規(guī)格：

￥2208
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(píng)價(jià)
相關(guān)產(chǎn)品
靶點(diǎn)詳情

產(chǎn)品詳情

純度：

Greater than 85% as determined by SDS-PAGE.
基因名：

XYLT2
Uniprot No.：

Q9H1B5
種屬：

Homo sapiens (Human)
蛋白長(zhǎng)度：

Partial
來(lái)源：

Yeast
分子量：

93.9 kDa
表達(dá)區(qū)域：

37-865aa
氨基酸序列

GLEEDEAGEKGRQRKPRPLDPGEGSKDTDSSAGRRGSTGRRHGRWRGRAESPGVPVAKVVRAVTSRQRASRRVPPAPPPEAPGRQNLSGAAAGEALVGAAGFPPHGDTGSVEGAPQPTDNGFTPKCEIVGKDALSALARASTKQCQQEIANVVCLHQAGSLMPKAVPRHCQLTGKMSPGIQWDESQAQQPMDGPPVRIAYMLVVHGRAIRQLKRLLKAVYHEQHFFYIHVDKRSDYLHREVVELAQGYDNVRVTPWRMVTIWGGASLLRMYLRSMRDLLEVPGWAWDFFINLSATDYPTRTNEELVAFLSKNRDKNFLKSHGRDNSRFIKKQGLDRLFHECDSHMWRLGERQIPAGIVVDGGSDWFVLTRSFVEYVVYTDDPLVAQLRQFYTYTLLPAESFFHTVLENSLACETLVDNNLRVTNWNRKLGCKCQYKHIVDWCGCSPNDFKPQDFLRLQQVSRPTFFARKFESTVNQEVLEILDFHLYGSYPPGTPALKAYWENTYDAADGPSGLSDVMLTAYTAFARLSLHHAATAAPPMGTPLCRFEPRGLPSSVHLYFYDDHFQGYLVTQAVQPSAQGPAETLEMWLMPQGSLKLLGRSDQASRLQSLEVGTDWDPKERLFRNFGGLLGPLDEPVAVQRWARGPNLTATVVWIDPTYVVATSYDITVDTETEVTQYKPPLSRPLRPGPWTVRLLQFWEPLGETRFLVLPLTFNRKLPLRKDDASWLHAGPPHNEYMEQSFQGLSSILNLPQPELAEEAAQRHTQLTGPALEAWTDRELSSFWSVAGLCAIGPSPCPSLEPCRLTSWSSLSPDPKSELGPVKADGRLR
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：

C-terminal 6xHis-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. If the delivery form is lyophilized powder, the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose.
復(fù)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(chǔ)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：

Delivery time may differ from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
注意事項(xiàng)：

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(píng)價(jià)

靶點(diǎn)詳情

功能：

Catalyzes the first step in the biosynthesis of chondroitin sulfate, heparan sulfate and dermatan sulfate proteoglycans, such as DCN. Transfers D-xylose from UDP-D-xylose to specific serine residues of the core protein.
基因功能參考文獻(xiàn)：
1. mutations in the XYLT2 gene result in a variable phenotype dominated by spinal osteoporosis, cataract, and hearing loss. PMID: 26987875
2. XYLT2 mutations cause a relatively distinct phenotype, the so-called spondyloocular syndrome. PMID: 27871115
3. Homozygosity for frameshift mutations in XYLT2 result in a spondylo-ocular syndrome with bone fragility, cataracts, and hearing defects. PMID: 26027496
4. Demonstrate that XT-II is the predominant isoenzyme responsible for XT activity in serum. The proof was performed using UDP-xylose as the xylose donor, as well as the compound UDP-4-azido-4-deoxyxylose, which is a selective xylose donor for XT-I. PMID: 25748573
5. Seven XYLT2 promoter single nucleotide variants (SNVs) were identified and genotyped. PMID: 25704086
6. The study identified and characterized for the first time the XYLT2 gene promoter region and transcription factors involved in its regulation. PMID: 22886070
7. demonstrate that a soluble form of human XT-II expressed in the xylosyltransferase-deficient pgsA-745 (S745) Chinese hamster ovary cell line is indeed capable of catalyzing the transfer of xylose to a variety of peptide substrates PMID: 17194707
8. Our data show for the first time that XT-I and XT-II are xylosyltransferases with similar but not identical properties, pointing to their potential role in modulating the cellular proteoglycan pool. PMID: 18023272
9. Our data show that a XYLT2 haplotype is associated with nephropathy in type 1 diabetic patients PMID: 18789912
10. The deviation from Hardy-Weinberg equilibrium of two XYLT2 variants might be due to gene-phenotype associations which remain to be explored, as well as the possibility of gene-gene interactions. PMID: 19197251
11. A protein sequence alignment and polarity plot of XylT-I and XylT-II revealed several Cardin-Weintraub motifs and charged surface clusters, which might be involved in electrostatic-mediated heparin-binding. PMID: 19289103
12. serum XylT levels may be an informative biomarker in patients who suffer from diseases affecting platelet and/or liver homeostasis. PMID: 19389916
顯示更多

收起更多
相關(guān)疾?。?/div>
Spondyloocular syndrome (SOS); Pseudoxanthoma elasticum (PXE)
亞細(xì)胞定位：

Golgi apparatus membrane; Single-pass type II membrane protein. Secreted.
蛋白家族：

Glycosyltransferase 14 family, XylT subfamily
組織特異性：

Widely expressed. Expressed at higher level in kidney and pancreas.
數(shù)據(jù)庫(kù)鏈接：

HGNC: 15517

OMIM: 264800

KEGG: hsa:64132

STRING: 9606.ENSP00000017003

UniGene: Hs.463416