BD-PT1913

GLCNE Rabbit Polyclonal Antibody

GNE; GLCNE; Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase; UDP-GlcNAc-2-epimerase/ManAc kinase

常规抗体

GNE

Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase

WB

Human,Mouse,Rat

1 mg/ml

Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.

10020

http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=10020

Q9Y223

http://www.uniprot.org/uniprotkb/Q9Y223/entry

50798

http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=50798

Q91WG8

http://www.uniprot.org/uniprot/Q91WG8

114711

http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=114711

O35826

http://www.uniprot.org/uniprot/O35826

The antiserum was produced against synthesized peptide derived from human GNE. AA range:592-641

GLCNE Polyclonal Antibody detects endogenous levels of GLCNE protein.

WB 1:500 - 1:2000. IHC 1:100 - 1:300. ELISA: 1:5000.. IF 1:50-200

80kD

-20°C/1 year

Polyclonal, Rabbit,IgG

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],

Highest expression in liver and placenta. Also found in heart, brain, lung, kidney, skeletal muscle and pancreas. Isoform 1 is expressed in heart, brain, kidney, liver, placenta, lung, spleen, pancreas, skeletal muscle and colon. Isoform 2 is expressed mainly in placenta, but also in brain, kidney, liver, lung, pancreas and colon. Isoform 3 is expressed at low level in kidney, liver, placenta and colon.

Cytoplasm .

Amino sugar and nucleotide sugar metabolism;

catalytic activity:ATP + N-acyl-D-mannosamine = ADP + N-acyl-D-mannosamine 6-phosphate.,catalytic activity:UDP-N-acetyl-D-glucosamine = UDP-N-acetyl-D-mannosamine.,disease:Defects in GNE are a cause of sialuria [MIM:269921]; 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.,disease:Defects in GNE are the cause of inclusion body myopathy type 2 (IBM2) [MIM:600737]. 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.,disease:Defects in GNE are the cause of Nonaka myopathy (NM) [MIM:605820]; 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.,enzyme regulation:Allosterically regulated (Probable); feedback inhibited by cytidine monophosphate-N-acetylneuraminic acid (CMP-Neu5Ac), the end product of neuraminic acid biosynthesis. Activity is dependent on oligomerization. The monomer is inactive, whereas the dimer catalyzes only the phosphorylation of N-acetylmannosamine; the hexamer is fully active for both enzyme activities (By similarity). Up-regulated after PKC-dependent phosphorylation.,function:Regulates and initiates biosynthesis of N-acetylneuraminic acid (NeuAc), a precursor of sialic acids. Plays an essential role in early development (By similarity). Required for normal sialylation in hematopoietic cells. Sialylation is implicated in cell adhesion, signal transduction, tumorigenicity and metastatic behavior of malignant cells.,pathway:Amino-sugar metabolism; N-acetylneuraminic acid biosynthesis.,PTM:Phosphorylated by PKC.,similarity:In the C-terminal section; belongs to the ROK (nagC/xylR) family.,similarity:In the N-terminal section; belongs to the UDP-N-acetylglucosamine 2-epimerase family.,subunit:Homodimer and homohexamer.,tissue specificity:Highest expression in liver and placenta. Also found in heart, brain, lung, kidney, skeletal muscle and pancreas.,

现货

The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.