NAGPA Antibody, FITC conjugated

Code CSB-PA015417LC01HU
Size US$166
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Product Details

Full Product Name
Rabbit anti-Homo sapiens (Human) NAGPA Polyclonal antibody
Uniprot No.
Target Names
NAGPA
Alternative Names
Mannose 6-phosphate-uncovering enzyme antibody; N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase antibody; NAGPA antibody; NAGPA_HUMAN antibody; Phosphodiester alpha-GlcNAcase antibody
Raised in
Rabbit
Species Reactivity
Human
Immunogen
Recombinant Human N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase protein (327-438AA)
Immunogen Species
Homo sapiens (Human)
Conjugate
FITC
Clonality
Polyclonal
Isotype
IgG
Purification Method
>95%, Protein G purified
Concentration
It differs from different batches. Please contact us to confirm it.
Buffer
Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, pH 7.4
Form
Liquid
Troubleshooting and FAQs
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

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Target Background

Function
Catalyzes the second step in the formation of the mannose 6-phosphate targeting signal on lysosomal enzyme oligosaccharides by removing GlcNAc residues from GlcNAc-alpha-P-mannose moieties, which are formed in the first step. Also hydrolyzes UDP-GlcNAc, a sugar donor for Golgi N-acetylglucosaminyltransferases.
Gene References into Functions
  1. 14 variations were found in GNPTAB, GNPTG and NAGPA genes. PMID: 29289611
  2. SNPs covering GNPTAB, GNPTG and NAGPA were subjected to genotyping, association analysis was performed on all SNPs. Significant association of rs17031962 in GNPTAB and rs882294 in NAGPA with developmental dyslexia in a Chinese population was identified after false discovery rate correction for multiple comparisons. PMID: 25643770
  3. Mutational analysis of several residues in a highly conserved surface cavity of hUCE revealed that they are essential for function. PMID: 23572527
  4. To date mutations in GNPTAB, GNPTG, and NAGPA have been associated with stuttering. These genes encode the lysosomal enzyme targeting pathway, defective in mucolipidosis. (Review) PMID: 22884963
  5. Analysis of mannose 6-phosphate uncovering enzyme mutations associated with persistent stuttering. PMID: 21956109
  6. identified three mutations in the NAGPA gene associated with stuttering PMID: 20147709
  7. synthesis as a proenzyme that is activated by furin [mannose 6-phosphate-uncovering enzyme] PMID: 12058031
  8. The mannose 6-phosphate uncovering enzyme participates in the uncovering of the mannose 6-phosphate recognition tag on lysosomal enzymes, a process that facilitates recognition of those enzymes by mannose 6-phosphate receptors to delivery to lysosomes. PMID: 15976452

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Involvement in disease
Defects in NAGPA have been suggested to play a role in susceptibility to persistent stuttering. Stuttering is a common speech disorder characterized by repetitions, prolongations, and interruptions in the flow of speech.
Subcellular Location
Golgi apparatus, Golgi stack membrane; Single-pass type I membrane protein. Golgi apparatus, trans-Golgi network. Note=Cis/medial Golgi.
Tissue Specificity
Isoform 2 may be brain-specific.
Database Links

HGNC: 17378

OMIM: 607985

KEGG: hsa:51172

STRING: 9606.ENSP00000310998

UniGene: Hs.21334

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