Product Name
Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), Recombinant Protein
Full Product Name
Recombinant Human Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE)
Product Gene Name
GNE recombinant protein
[Similar Products]
Product Synonym Gene Name
GNE[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
Sequence Positions
1-722aa, full length protein
Sequence
MEKNGNNRKL RVCVATCNRA DYSKLAPIMF GIKTEPEFFE LDVVVLGSHL IDDYGNTYRM IEQDDFDINT RLHTIVRGED EAAMVESVGL ALVKLPDVLN RLKPDIMIVH GDRFDALALA TSAALMNIRI LHIEGGEVSG TIDDSIRHAI TKLAHYHVCC TRSAEQHLIS MCEDHDRILL AGCPSYDKLL SAKNKDYMSI IRMWLGDDVK SKDYIVALQH PVTTDIKHSI KMFELTLDAL ISFNKRTLVL FPNIDAGSKE MVRVMRKKGI EHHPNFRAVK HVPFDQFIQL VAHAGCMIGN SSCGVREVGA FGTPVINLGT RQIGRETGEN VLHVRDADTQ DKILQALHLQ FGKQYPCSKI YGDGNAVPRI LKFLKSIDLQ EPLQKKFCFP PVKENISQDI DHILETLSAL AVDLGGTNLR VAIVSMKGEI VKKYTQFNPK TYEERINLIL QMCVEAAAEA VKLNCRILGV GISTGGRVNP REGIVLHSTK LIQEWNSVDL RTPLSDTLHL PVWVDNDGNC AALAERKFGQ GKGLENFVTL ITGTGIGGGI IHQHELIHGS SFCAAELGHL VVSLDGPDCS CGSHGCIEAY ASGMALQREA KKLHDEDLLL VEGMSVPKDE AVGALHLIQA AKLGNAKAQS ILRTAGTALG LGVVNILHTM NPSLVILSGV LASHYIHIVK DVIRQQALSS VQDVDVVVSD LVDPALLGAA SMVLDYTTRR IY
3D Structure
ModBase 3D Structure for Q9Y223
Host
E Coli or Yeast or Baculovirus or Mammalian Cell
Purity/Purification
>85% (SDS-PAGE) (lot specific)
Form/Format
Liquid containing glycerol
Tag Information
This protein contains an N-terminal tag and may also contain a C-terminal tag. Tag types are determined by various factors including tag-protein stability, please inquire for tag information.
Sterility
Sterile filter available upon request.
Endotoxin
Low endotoxin available upon request.
Storage Buffer
Tris-based buffer, 50% glycerol
Preparation and Storage
Store at -20 degrees C. For long-term storage, store at -20 degrees C or -80 degrees C. Store working aliquots at 4 degrees C for up to one week. Repeated freezing and thawing is not recommended.
ISO Certification
Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.
Other Notes
Small volumes of GNE recombinant protein vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
Related Product Information for
GNE recombinant protein
This protein is a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting enzyme in the sialic acid biosynthetic pathway. Sialic acid modification of cell surface molecules is crucial for their function in many
biologic processes, including cell adhesion and signal transduction. Differential sialylation of cell surface molecules is also implicated in the tumorigenicity and metastatic behavior of malignant cells. Mutations in this gene are associated with sialuria, autosomal recessive inclusion body myopathy, and Nonaka myopathy. Alternative splicing of this gene results in transcript variants encoding different isoforms.
NCBI/Uniprot data below describe general gene information for GNE. It may not necessarily be applicable to this product.
NCBI Accession #
NP_001121699.1
[Other Products]
NCBI GenBank Nucleotide #
NM_001128227.2
[Other Products]
UniProt Primary Accession #
Q9Y223
[Other Products]
UniProt Secondary Accession #
Q0VA94; A6PZH2; A6PZH3; A7UNU7; B2R6E1; B7Z372; B7Z428; D3DRP7; F5H499; H0YFA7[Other Products]
UniProt Related Accession #
Q9Y223[Other Products]
Molecular Weight
66,784 Da
NCBI Official Full Name
bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase isoform 1
NCBI Official Synonym Full Names
glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
NCBI Official Symbol
GNE [Similar Products]
NCBI Official Synonym Symbols
NM; DMRV; IBM2; Uae1; GLCNE
[Similar Products]
NCBI Protein Information
bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
UniProt Protein Name
Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
UniProt Synonym Protein Names
UDP-GlcNAc-2-epimerase/ManAc kinaseIncluding the following 2 domains:UDP-N-acetylglucosamine 2-epimerase (hydrolyzing) (EC:3.2.1.183)Alternative name(s):UDP-GlcNAc-2-epimerase; Uridine diphosphate-N-acetylglucosamine-2-epimerase
Protein Family
Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
UniProt Gene Name
GNE [Similar Products]
UniProt Synonym Gene Names
GLCNE [Similar Products]
NCBI Summary for GNE
The protein encoded by this gene is a bifunctional enzyme that initiates and regulates the biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. It is a rate-limiting enzyme in the sialic acid biosynthetic pathway. Sialic acid modification of cell surface molecules is crucial for their function in many biologic processes, including cell adhesion and signal transduction. Differential sialylation of cell surface molecules is also implicated in the tumorigenicity and metastatic behavior of malignant cells. Mutations in this gene are associated with sialuria, autosomal recessive inclusion body myopathy, and Nonaka myopathy. Alternative splicing of this gene results in transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
UniProt Comments for GNE
Regulates and initiates biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. Plays an essential role in early development (). Required for normal sialylation in hematopoietic cells. Sialylation is implicated in cell adhesion, signal transduction, tumorigenicity and metastatic behavior of malignant cells.
Research Articles on GNE
1. This study showed thatsSeven patients out of 20 were found to have disease-causing mutations in genes associated with inclusion body myopathy genes allowing for inclusion body myopathy in the differential diagnosis or associated with unexpected diagnosis.
Precautions
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Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.
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