Recombinant Full Length Human GNE Protein, GST-tagged

• Cat.No.: GNE-5383HF
• Product Overview: Human GNE full-length ORF ( NP_005467.1, 1 a.a. - 722 a.a.) recombinant protein with GST-tag at N-terminal.

Specification

• Species: Human
• Source: In Vitro Cell Free System
• Tag: GST
• ProteinLength: 722 amino acids
• Description: 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
• Molecular Mass: 105.7 kDa
• AA Sequence: MEKNGNNRKLRVCVATCNRADYSKLAPIMFGIKTEPEFFELDVVVLGSHLIDDYGNTYRMIEQDDFDINTRLHTIVRGEDEAAMVESVGLALVKLPDVLNRLKPDIMIVHGDRFDALALATSAALMNIRILHIEGGEVSGTIDDSIRHAITKLAHYHVCCTRSAEQHLISMCEDHDRILLAGCPSYDKLLSAKNKDYMSIIRMWLGDDVKSKDYIVALQHPVTTDIKHSIKMFELTLDALISFNKRTLVLFPNIDAGSKEMVRVMRKKGIEHHPNFRAVKHVPFDQFIQLVAHAGCMIGNSSCGVREVGAFGTPVINLGTRQIGRETGENVLHVRDADTQDKILQALHLQFGKQYPCSKIYGDGNAVPRILKFLKSIDLQEPLQKKFCFPPVKENISQDIDHILETLSALAVDLGGTNLRVAIVSMKGEIVKKYTQFNPKTYEERINLILQMCVEAAAEAVKLNCRILGVGISTGGRVNPREGIVLHSTKLIQEWNSVDLRTPLSDTLHLPVWVDNDGNCAALAERKFGQGKGLENFVTLITGTGIGGGIIHQHELIHGSSFCAAELGHLVVSLDGPDCSCGSHGCIEAYASGMALQREAKKLHDEDLLLVEGMSVPKDEAVGALHLIQAAKLGNAKAQSILRTAGTALGLGVVNILHTMNPSLVILSGVLASHYIHIVKDVIRQQALSSVQDVDVVVSDLVDPALLGAASMVLDYTTRRIY
• Applications: Enzyme-linked Immunoabsorbent Assay
  Western Blot (Recombinant protein)
  Antibody Production
  Protein Array
• Notes: Best use within three months from the date of receipt of this protein.
• Storage: Store at -80 centigrade. Aliquot to avoid repeated freezing and thawing.
• Storage Buffer: 50 mM Tris-HCl, 10 mM reduced Glutathione, pH=8.0 in the elution buffer.

Gene Information

• Gene Name: GNE glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase [ Homo sapiens ]
• Official Symbol: GNE
• Synonyms: GNE; glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase; IBM2, UDP N acetylglucosamine 2 epimerase/N acetylmannosamine kinase; bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase; Uae1; N-acylmannosamine kinase; UDP-GlcNAc-2-epimerase/ManAc kinase; UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase; UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase; NM; DMRV; IBM2; GLCNE
• Gene ID: 10020
• mRNA Refseq: NM_001128227
• Protein Refseq: NP_001121699
• MIM: 603824
• UniProt ID: Q9Y223