GNPTG Antibody – Rabbit Polyclonal

Function: May recognize the substrate of GlcNAc-1-phosphotransferase but also the lysosomal proteins with mannose-6-phosphate residues. Ref.1

Subunit structure: Hexamer of two alpha, two beta and two gamma subunit; disulfide-linked. It is believed that the alpha and/or the beta subunit of the enzyme contain the catalytic portion and that the gamma subunit functions in recognition of the lysosomal enzymes. Ref.1

Subcellular location: Secreted

By similarity. Golgi apparatus

By similarity.

Tissue specificity: Widely expressed. Ref.1

Involvement in disease: Mucolipidosis type III complementation group C (MLIIIC) [MIM:252605]: Autosomal recessive disease of lysosomal hydrolase trafficking. Unlike the related diseases, mucolipidosis II and IIIA, the enzyme affected in mucolipidosis IIIC (GlcNAc-phosphotransferase) retains full transferase activity on synthetic substrates but lacks activity on lysosomal hydrolases. Typical clinical findings include stiffness of the hands and shoulders, claw-hand deformity, scoliosis, short stature, coarse facies, and mild mental retardation. Radiographically, severe dysostosis multiplex of the hip is characteristic and frequently disabling. The clinical diagnosis can be confirmed by finding elevated serum lysosomal enzyme levels and/or decreased lysosomal enzyme levels in cultured fibroblasts.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1

Sequence similarities: Contains 1 PRKCSH domain.

Sequence caution: The sequence AAP34456.1 differs from that shown. Reason: Erroneous initiation.