Recombinant Human Nacetylglucosamine1phosphotransferase subunit gamma (GNPTG)

^{In Stock}

中文名称：

人GNPTG重组蛋白
货号：

CSB-EP890727HU
规格：

￥1536
图片：
(Tris-Glycine gel) Discontinuous SDS-PAGE (reduced) with 5% enrichment gel and 15% separation gel.
其他：

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纯度：

Greater than 95% as determined by SDS-PAGE.
生物活性：

Not Test
基因名：

GNPTG
Uniprot No.：

Q9UJJ9
别名：

GlcNAc-1-phosphotransferase subunit gamma;UDP-N-acetylglucosamine-1-phosphotransferase subunit gamma
种属：

Homo sapiens (Human)
蛋白长度：

Full Length of Mature Protein
来源：

E.coli
分子量：

38.7
表达区域：

25-305aa
氨基酸序列

AKMKVVEEPNAFGVNNPFLPQASRLQAKRDPSPVSGPVHLFRLSGKCFSLVESTYKYEFCPFHNVTQHEQTFRWNAYSGILGIWHEWEIANNTFTGMWMRDGDACRSRSRQSKVELACGKSNRLAHVSEPSTCVYALTFETPLVCHPHALLVYPTLPEALQRQWDQVEQDLADELITPQGHEKLLRTLFEDAGYLKTPEENEPTQLEGGPDSLGFETLENCRKAHKELSKEIKRLKGLLTQHGIPYTRPTETSNLEHLGHETPRAKSPEQLRGDPGLRGSL
Note: The complete sequence including tag sequence, target protein sequence and linker sequence could be provided upon request.
蛋白标签：

C-terminal 6xHis-tagged
产品提供形式：

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.
缓冲液：

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.
复溶：

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.
储存条件：

Store at -20°C/-80°C upon receipt, aliquoting is necessary for mutiple use. Avoid repeated freeze-thaw cycles.
保质期：

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.
货期：

3-7 business days
注意事项：

Repeated freezing and thawing is not recommended. Store working aliquots at 4℃ for up to one week.
Datasheet & COA：

Please contact us to get it.

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功能：

Non-catalytic subunit of the N-acetylglucosamine-1-phosphotransferase complex, an enzyme that catalyzes the formation of mannose 6-phosphate (M6P) markers on high mannose type oligosaccharides in the Golgi apparatus. Binds and presents the high mannose glycans of the acceptor to the catalytic alpha and beta subunits (GNPTAB). Enhances the rate of N-acetylglucosamine-1-phosphate transfer to the oligosaccharides of acid hydrolase acceptors.
基因功能参考文献：
1. Study identified three novel mutations in GNPTG causing Mucolipidosis type III. Some were associated with severe clinical phenotype with an earlier onset of signs and symptoms and poorer prognosis. PMID: 29170090
2. Analysis of the missense mutations in the gamma subunit of GlcNAc-1-phosphotransferase reported in patients with mucolipidosis III gamma shows that three of the four variants, p.G106S, p.G126S and p.C142Y, caused misfolding of the gamma subunit, while one variant, p.T286M, was normal. The misfolded gamma subunits were retained in the endoplasmic reticulum and failed to rescue the lysosomal targeting of lysosomal acid g... PMID: 27038293
3. we suggest that GNPTG analysis must be performed on gDNA because of the instability of mRNA containing premature stop codons and the occurrence of mRNA editing. The mRNA editing could play an important role in modulating the association between mutant genotype and clinical phenotype. PMID: 26935170
4. persistent stuttering is associated with mutations in GNPTG that are generally not found in mucolipidosis. PMID: 26130485
5. findings expand the mutation spectrum of the GNPTG gene in Mucolipidosis type III gamma (three novel mutations were identified) PMID: 24316125
6. two novel heterozygous mutations in GNPTG, including a splice site mutation and a 1-bp deletion in a Chinese family with mucolipidosis type III gamma. PMID: 20951619
7. results suggest that PRL-3's roles in motility, invasion, and metastasis in colon cancer are critically controlled by the integrin beta1-ERK1/2-MMP2 signaling PMID: 20034096
8. identified mutations in GNPTG gene in subjects with stuttering PMID: 20147709
9. analysis of functional differences in alpha, beta, and gamma subunits of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase PMID: 19955174
10. The mutational spectrum of the GNPTG gene is strongly influenced by the properties of the local DNA sequence environment. PMID: 19370764
11. novel mutation identified in GNPTG in mucolipidosis type III gamma resulting in truncated but stable gamma-subunit;gamma subunit appears to be involved in regulation of GlcNAc-1-phosphotransferase activity rather than general binding of lysosomal enzymes PMID: 19708128
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相关疾病：

Mucolipidosis type III complementation group C (MLIIIC)
亚细胞定位：

Secreted. Golgi apparatus.
组织特异性：

Widely expressed.
数据库链接：

HGNC: 23026

OMIM: 252605

KEGG: hsa:84572

STRING: 9606.ENSP00000204679

UniGene: Hs.241575

Recombinant Human Nacetylglucosamine1phosphotransferase subunit gamma (GNPTG)

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