Antibody Name:	Anti-GNE Antibody
Antibody SKU:	CAB8570
Antibody Size:	20uL, 50uL, 100uL
Application:	WB IHC
Reactivity:	Human, Mouse, Rat
Host Species:	Rabbit
Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 1-150 of human GNE (NP_001121699.1).

Application:	WB IHC
Recommended Dilution:	WB 1:500 - 1:2000 IHC 1:50 - 1:100
Reactivity:	Human, Mouse, Rat
Positive Samples:	LO2, Jurkat, HeLa, mouse liver, rat liver

Immunogen:	Recombinant fusion protein containing a sequence corresponding to amino acids 1-150 of human GNE (NP_001121699.1).
Purification Method:	Affinity purification
Storage Buffer:	Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
Isotype:	IgG
Sequence:	METY GYLQ RESC FQGP HELY FKNL SKRN KQIM EKNG NNRK LRVC VATC NRAD YSKL APIM FGIK TEPE FFEL DVVV LGSH LIDD YGNT YRMI EQDD FDIN TRLH TIVR GEDE AAMV ESVG LALV KLPD VLNR LKPD IMIV HGDR FDAL AL
Gene ID:	10020
Uniprot:	Q9Y223
Cellular Location:	Cytoplasm
Calculated MW:	66kDa/71kDa/78kDa/79kDa/83kDa
Observed MW:	79kDa

Synonyms:

GNE, DMRV, GLCNE, IBM2, NM, Uae1

Background:

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.

UniProt Protein Function:	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. Defects in GNE are a cause of sialuria (SIALURIA); also known as sialuria French type. In sialuria, free sialic acid accumulates in the cytoplasm and gram quantities of neuraminic acid are secreted in the urine. The metabolic defect involves lack of feedback inhibition of UDP-GlcNAc 2-epimerase by CMP-Neu5Ac, resulting in constitutive overproduction of free Neu5Ac. Clinical features include variable degrees of developmental delay, coarse facial features and hepatomegaly. Sialuria inheritance is autosomal dominant. Defects in GNE are the cause of inclusion body myopathy type 2 (IBM2). Hereditary inclusion body myopathies are a group of neuromuscular disorders characterized by adult onset, slowly progressive distal and proximal weakness and a typical muscle pathology including rimmed vacuoles and filamentous inclusions. IBM2 is an autosomal recessive disorder affecting mainly leg muscles, but with an unusual distribution that spares the quadriceps as also observed in Nonaka myopathy. Defects in GNE are the cause of Nonaka myopathy (NM); also known as distal myopathy with rimmed vacuoles (DMRV). NM is an autosomal recessive muscular disorder, allelic to inclusion body myopathy 2. It is characterized by weakness of the anterior compartment of the lower limbs with onset in early adulthood, and sparing of the quadriceps muscles. As the inclusion body myopathy, NM is histologically characterized by the presence of numerous rimmed vacuoles without inflammatory changes in muscle specimens. 5 isoforms of the human protein are produced by alternative splicing.
UniProt Protein Details:	Protein type:EC 2.7.1.60; Isomerase; Cell adhesion; Cytoskeletal; Kinase, other; Carbohydrate Metabolism - amino sugar and nucleotide sugar; EC 3.2.1.183; Motility/polarity/chemotaxis Chromosomal Location of Human Ortholog: 9p13.3 Cellular Component: cytoplasm; cytosol Molecular Function:N-acylmannosamine kinase activity; protein binding; UDP-N-acetylglucosamine 2-epimerase activity Biological Process: cell adhesion; N-acetylneuraminate metabolic process Disease: Inclusion Body Myopathy 2, Autosomal Recessive; Nonaka Myopathy; Sialuria
NCBI Summary:	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 Code:	Q9Y223
NCBI GenInfo Identifier:	45476991
NCBI Gene ID:	10020
NCBI Accession:	Q9Y223.1
UniProt Secondary Accession:	Q9Y223,Q0VA94, A6PZH2, A6PZH3, A7UNU7, B2R6E1, B7Z372 B7Z428, D3DRP7, F5H499, H0YFA7,
UniProt Related Accession:	Q9Y223
Molecular Weight:	66,784 Da
NCBI Full Name:	Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase
NCBI Synonym Full Names:	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
NCBI Official Symbol:	GNE
NCBI Official Synonym Symbols:	NM; DMRV; IBM2; Uae1; GLCNE
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
UniProt Entry Name:	GLCNE_HUMAN

	Western blot analysis of extracts of various cell lines, using GNE antibody (CAB8570) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 10s.
	Immunohistochemistry of paraffin-embedded mouse brain using GNE antibody (CAB8570) at dilution of 1:100 (40x lens).
	Immunohistochemistry of paraffin-embedded human esophagus using GNE antibody (CAB8570) at dilution of 1:100 (40x lens).