Human N-acetylglucosamine-1-phosphate transferase, gamma subunit ELISA Kit | GNPTG elisa kit
Human N-acetylglucosamine-1-phosphotransferase subunit gamma, GNPTG ELISA Kit
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 membrane; Golgi apparatus
Molecular Function: UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity; protein homodimerization activity
Biological Process: carbohydrate phosphorylation; N-glycan processing to lysosome
Disease: Mucolipidosis Iii Gamma
Research Articles on GNPTG
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Product Notes
The Human GNPTG gnptg (Catalog #AAA9330518) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA9330518 ELISA Kit recognizes Human GNPTG. It is sometimes possible for the material contained within the vial of "N-acetylglucosamine-1-phosphate transferase, gamma subunit, ELISA Kit" 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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