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N-Acetylglucosamine-1-Phosphate Transferase, alpha and beta Subunits (GNPTAB) ELISA Kits

GNPTAB encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. Additionally we are shipping GNPTAB Antibodies (32) and GNPTAB Proteins (4) and many more products for this protein.

list all ELISA KIts Gene Name GeneID UniProt
Anti-Human GNPTAB GNPTAB 79158 Q3T906
Anti-Mouse GNPTAB GNPTAB 432486 Q69ZN6
Anti-Rat GNPTAB GNPTAB 362865  
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More ELISA Kits for GNPTAB Interaction Partners

Zebrafish N-Acetylglucosamine-1-Phosphate Transferase, alpha and beta Subunits (GNPTAB) interaction partners

  1. The DMAP interaction domain of the alpha subunit (show POLG ELISA Kits) functions in the selective recognition of acid hydrolase substrates and provides an explanation for the impaired phosphorylation of acid hydrolases in a patient with mucolipidosis II.

Human N-Acetylglucosamine-1-Phosphate Transferase, alpha and beta Subunits (GNPTAB) interaction partners

  1. GlcNAc-1-phosphotransferase gamma (show GNPTG ELISA Kits)-subunits bind to glycosylated region in the no-similarity domain 2 of alpha-subunit (show POLG ELISA Kits), which is independent on cysteine 70 identified to be responsible for alpha-subunit (show POLG ELISA Kits) homodimerization.

  2. SNPs covering GNPTAB, GNPTG (show GNPTG ELISA Kits) and NAGPA (show NAGPA ELISA Kits) were subjected to genotyping, association analysis was performed on all SNPs. Significant association of rs17031962 in GNPTAB and rs882294 in NAGPA (show NAGPA ELISA Kits) with developmental dyslexia in a Chinese population was identified after false discovery rate correction for multiple comparisons.

  3. A novel intermediate mucolipidosis II/IIIalphabeta caused by GNPTAB mutation in the cytosolic N-terminal domain.

  4. novel mouse model of MLII homozygous for a patient mutation in the GNPTAB gene.

  5. both missense and frameshift mutations are associated with a severe clinical phenotype causing retention of the protein in the endoplasmic reticulum and failure to cleave the alpha/beta-subunit (show POLG ELISA Kits) precursor protein are associated with a severe clinical phenotype

  6. study located two homozygous nonsense mutations in the GNPTAB gene, c.1071G>A (p.W357X) and c.1090C>T (p.R364X) in two patients with mucolipidosis II alpha/beta

  7. The DMAP interaction domain of the alpha subunit (show POLG ELISA Kits) functions in the selective recognition of acid hydrolase substrates and provides an explanation for the impaired phosphorylation of acid hydrolases in a patient with mucolipidosis II.

  8. data suggest that the oligomeric type III membrane protein PT complex requires a combinatorial sorting motif that forms a tertiary epitope to be recognized by distinct sites within the coat protein (show GOLPH3 ELISA Kits) complex II machinery

  9. To date mutations in GNPTAB, GNPTG (show GNPTG ELISA Kits), and NAGPA (show NAGPA ELISA Kits) have been associated with stuttering. These genes encode the lysosomal enzyme targeting pathway, defective in mucolipidosis. (Review)

  10. By using linkage and mutational analyses, there have identified that the family members contain compound heterozygous mutations of p.R364X and c.2715+1G>A in the GNPTAB gene.

Mouse (Murine) N-Acetylglucosamine-1-Phosphate Transferase, alpha and beta Subunits (GNPTAB) interaction partners

  1. novel mouse model of MLII homozygous for a patient mutation in the GNPTAB gene.

  2. The DMAP interaction domain of the alpha subunit (show POLG ELISA Kits) functions in the selective recognition of acid hydrolase substrates and provides an explanation for the impaired phosphorylation of acid hydrolases in a patient with mucolipidosis II.

  3. Retinal degeneration with storage disease phenotype in most exocrine glands in Gnptab null mice

GNPTAB Antigen Profile

Antigen Summary

This gene encodes two of three subunit types of the membrane-bound enzyme N-acetylglucosamine-1-phosphotransferase, a heterohexameric complex composed of two alpha, two beta, and two gamma subunits. The encoded protein is proteolytically cleaved at the Lys928-Asp929 bond to yield mature alpha and beta polypeptides while the gamma subunits are the product of a distinct gene (GeneID 84572). In the Golgi apparatus, the heterohexameric complex catalyzes the first step in the synthesis of mannose 6-phosphate recognition markers on certain oligosaccharides of newly synthesized lysosomal enzymes. These recognition markers are essential for appropriate trafficking of lysosomal enzymes. Mutations in this gene have been associated with both mucolipidosis II and mucolipidosis IIIA.

Gene names and symbols associated with GNPTAB

  • N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits (GNPTAB) antibody
  • N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits (gnptab) antibody
  • N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits (Gnptab) antibody
  • EG432486 antibody
  • GNPTA antibody
  • ICD antibody
  • mKIAA1208 antibody
  • RGD1564821 antibody
  • si:ch211-234f20.3 antibody
  • wu:fd55d09 antibody
  • zgc:122985 antibody
  • zgc:158502 antibody

Protein level used designations for GNPTAB

N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits , N-acetylglucosamine-1-phosphotransferase subunits alpha/beta , stealth protein gnptab , glcNAc-1-phosphotransferase subunits alpha/beta , UDP-N-acetylglucosamine-1-phosphotransferase subunits alpha/beta , N-acetylglucosamine-1-phosphotransferase subunits alpha/beta-like , n-acetylglucosamine-1-phosphotransferase subunits alpha/beta-like , GlcNAc phosphotransferase , UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosamine , glucosamine (UDP-N-acetyl)-lysosomal-enzyme N-acetylglucosamine phosphotransferase , stealth protein GNPTAB

GENE ID SPECIES
418096 Gallus gallus
452176 Pan troglodytes
553365 Danio rerio
697307 Macaca mulatta
100021000 Monodelphis domestica
100036684 Xenopus (Silurana) tropicalis
100067011 Equus caballus
100175423 Ciona intestinalis
100340567 Oryctolagus cuniculus
100394765 Callithrix jacchus
100483884 Ailuropoda melanoleuca
100546740 Meleagris gallopavo
100561961 Anolis carolinensis
100606002 Nomascus leucogenys
79158 Homo sapiens
432486 Mus musculus
475443 Canis lupus familiaris
100523554 Sus scrofa
509610 Bos taurus
362865 Rattus norvegicus
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