Recombinant Human NF1, GST-tagged
Cat.No. : | NF1-335H |
Product Overview : | Recombinant Human NF1(2719 a.a. - 2818 a.a.), fused with GST-tag at N-terminal, was expressed in wheat germ. |
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- Gene Information
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Description : | This gene product appears to function as a negative regulator of the ras signal transduction pathway. Mutations in this gene have been linked to neurofibromatosis type 1, juvenile myelomonocytic leukemia and Watson syndrome. The mRNA for this gene is subject to RNA editing (CGA>UGA->Arg1306Term) resulting in premature translation termination. Alternatively spliced transcript variants encoding different isoforms have also been described for this gene. |
Source : | Wheat germ |
Species : | Human |
Tag : | GST |
Molecular Mass : | 36.74 kDa |
AA Sequence : | DTYLPGIDEETSEESLLTPTSPYPP ALQSQLSITANLNLSNSMTSLATSQ HSPGIDKENVELSPTTGHCNSGRTR HGSASQVQKQRSAGSFKRNSIKKIV |
Applications : | ELISA; WB-Re; AP; Array |
Storage : | Store at -80°C. Aliquot to avoid repeated freezing and thawing. |
Storage Buffer : | 50 mM Tris-HCI, 10 mM reduced Glutathione, pH=8.0 in the elution buffer. |
Gene Name : | NF1 neurofibromin 1 [ Homo sapiens (human) ] |
Official Symbol : | NF1 |
Synonyms : | NF1; WSS; NFNS; VRNF; neurofibromin 1; neurofibromin; neurofibromatosis-related protein NF-1 |
Gene ID : | 4763 |
mRNA Refseq : | NM_000267 |
Protein Refseq : | NP_000258 |
MIM : | 613113 |
UniProt ID : | P21359 |
Chromosome Location : | 17q11.2 |
Pathway : | ATF-2 transcription factor network; FOXA2 and FOXA3 transcription factor networks; Integrated Breast Cancer Pathway |
Function : | Ras GTPase activator activity; phosphatidylcholine binding; phosphatidylethanolamine binding |
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Related Gene
For Research Use Only. Not intended for any clinical use. No products from Creative BioMart may be resold, modified for resale or used to manufacture commercial products without prior written approval from Creative BioMart.
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Q&As (7)
Ask a questionThe NF1 gene encodes neurofibromin, a protein primarily known for its role as a tumor suppressor. It regulates cell growth and differentiation.
Mutations in the NF1 gene can lead to a loss of neurofibromin function, resulting in uncontrolled RAS activation and increased cell proliferation, contributing to tumorigenesis.
Neurofibromin, the product of the NF1 gene, acts as a GTPase-activating protein (GAP) for RAS, accelerating the conversion of active RAS-GTP to its inactive form RAS-GDP, thereby negatively regulating the RAS/MAPK pathway.
NF1 interacts with several proteins in cellular pathways, including c-Raf, mTOR, and adenylate cyclase. Its dysregulation can influence the activity of these proteins and associated pathways.
By regulating the RAS/MAPK pathway, NF1 plays a crucial role in controlling cell growth, differentiation, and apoptosis.
Current therapeutic strategies for NF1-related disorders include surgical removal of tumors, targeted therapies like MEK inhibitors for plexiform neurofibromas, and regular monitoring for associated complications.
Neurofibromatosis Type 1 is characterized by multiple café-au-lait spots, skinfold freckling, neurofibromas, optic pathway gliomas, and certain bone abnormalities, among other manifestations.
Customer Reviews (3)
Write a reviewClear instructions, easy protocol.
Packaging was secure, intact.
Product arrived in good condition.
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