NCBI and Uniprot Product Information
NCBI Description
This gene encodes the gamma sunbunit of the N-acetylglucosamine-1-phosphotransferase complex. This hexameric complex, composed of alpha, beta and gamma subunits, catalyzes the first step in synthesis of a mannose 6-phosphate lysosomal recognition marker. This enzyme complex is necessary for targeting of lysosomal hydrolases to the lysosome. Mutations in the gene encoding the gamma subunit have been associated with mucolipidosis IIIC, also known as mucolipidosis III gamma.[provided by RefSeq, Feb 2010]
Uniprot Description
GNPTG: the gamma subunit of N-acetylglucosamine-1-phosphotransferase. May recognize the substrate of GlcNAc-1-phosphotransferase but also lysosomal proteins with mannose-6-phosphate residues. Defects in GNPTG cause a variant of pseudo-Hurler polydystrophy, an autosomal recessive disease of lysosomal hydrolase trafficking.
Protein type: Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 16p13.3
Cellular Component: Golgi apparatus
Molecular Function: protein homodimerization activity
Biological Process: carbohydrate phosphorylation
Disease: Mucolipidosis Iii Gamma
Research Articles on GNPTG
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Product Notes
The GNPTG gnptg (Catalog #AAA1277530) is a cDNA Clone and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: atggcggcgg ggctggcgcg gctcctgttg ctcctcgggc tctcggccgg cgggcccgcg ccggcaggtg cagcgaagat gaaggtggtg gaggagccca acgcgtttgg ggtgaacaac ccgttcttgc ctcaggccag tcgcctccag gccaagaggg atccttcacc cgtgtctgga cccgtgcatc tcttccgact ctcgggcaag tgcttcagcc tggtggagtc cacgtacaag tatgagttct gcccgttcca caacgtgacc cagcacgagc agaccttccg ctggaacgcc tacagtggga tcctcggcat ctggcacgag tgggagatcg ccaacaacac cttcacgggc atgtggatga gggacggtga cgcctgccgt tcccggagcc ggcagagcaa ggtggagctg gcgtgtggaa aaagcaaccg gctggcccat gtgtccgagc cgagcacctg cgtctacgcg ctgacgttcg agacccccct cgtctgccac ccccacgcct tgctagtgta cccaaccctg ccagaggccc tgcagcggca gtgggaccag gtagagcagg acctggccga tgagctgatc accccccagg gccatgagaa gttgctgagg acactttttg aggatgctgg ctacttaaag accccagaaa atgaacccac ccagctggag ggaggtcctg acagcttggg gtttgagacc ctggaaaact gcaggaaggc tcataaagaa ctctcaaagg agatcaaaag gctgaaaggt ttgctcaccc agcacggcat cccctacacg aggcccacag aaacttccaa cttggagcac ttgggccacg agacgcccag agccaagtct ccagagcagc tgcggggtga cccaggactg cgtgggagtt tgtga. It is sometimes possible for the material contained within the vial of "GNPTG, cDNA Clone" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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