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Hydrolases are transported to lysosomes after binding to mannose 6-phosphate receptors in the trans-Golgi network. Additionally we are shipping NAGPA Antibodies (4) and many more products for this protein.
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14 variations were found in GNPTAB (show GNPTAB Proteins), GNPTG (show GNPTG Proteins) and NAGPA genes.
SNPs covering GNPTAB (show GNPTAB Proteins), GNPTG (show GNPTG Proteins) and NAGPA were subjected to genotyping, association analysis was performed on all SNPs. Significant association of rs17031962 in GNPTAB (show GNPTAB Proteins) and rs882294 in NAGPA with developmental dyslexia in a Chinese population was identified after false discovery rate correction for multiple comparisons.
To date mutations in GNPTAB (show GNPTAB Proteins), GNPTG (show GNPTG Proteins), and NAGPA have been associated with stuttering. These genes encode the lysosomal enzyme targeting pathway, defective in mucolipidosis. (Review)
Analysis of mannose 6-phosphate uncovering enzyme mutations associated with persistent stuttering.
identified three mutations in the NAGPA gene associated with stuttering
synthesis as a proenzyme that is activated by furin (show FURIN Proteins) [mannose 6-phosphate-uncovering enzyme]
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.
UCE -/- mice were viable, grew normally & lacked detectable histologic abnormalities, but plasma levels of 6 acid hydrolases were elevated. UCE accounts for all the uncovering activity in the Golgi.
Hydrolases are transported to lysosomes after binding to mannose 6-phosphate receptors in the trans-Golgi network. This gene encodes the enzyme that catalyzes the second step in the formation of the mannose 6-phosphate recognition marker on lysosomal hydrolases. Commonly known as 'uncovering enzyme' or UCE, this enzyme removes N-acetyl-D-glucosamine (GlcNAc) residues from GlcNAc-alpha-P-mannose moieties and thereby produces the recognition marker. This reaction most likely occurs in the trans-Golgi network. This enzyme functions as a homotetramer of two disulfide-linked homodimers. In addition to having an N-terminal signal peptide, the protein's C-terminus contains multiple signals for trafficking it between lysosomes, the plasma membrane, and trans-Golgi network.
, alpha-N-acetylglucosaminyl phosphodiesterase
, lysosomal alpha-N-acetylglucosaminidase
, mannose 6-phosphate-uncovering enzyme
, phosphodiester alpha-GlcNAcase