GNPTG, Polyclonal Antibody

Anti -GNPTG (N-acetylglucosamine-1-phosphotransferase Subunit gamma, GlcNAc-1-phosphotransferase Subunit gamma, UDP-N-acetylglucosamine-1-phosphotransferase Subunit gamma, C16orf27, GNPTAG, CAB56184, LP2537, c316G12.3)

For Research Use Only. Not for use in diagnostic procedures.

Chromosome: 16; NC_000016.9 (1401900..1413352). Location: 16p13.3

Polyclonal

IgG

Mouse

Recognizes human GNPTG.

Affinity Purified
Purified by Protein A affinity chromatography.

Supplied as a liquid in PBS, pH 7.2.

May be stored at 4 degree C for short-term only. Aliquot to avoid repeated freezing and thawing. Store at -20 degree C. Aliquots are stable for at least 12 months. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.

Small volumes of anti-GNPTG antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

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

Antibodies; Abs to Carbohydrates, Glycoproteins

Western Blot (WB)

Suitable for use in Western Blot.

33,974 Da[Similar Products]

N-acetylglucosamine-1-phosphate transferase, gamma subunit

N-acetylglucosamine-1-phosphotransferase subunit gamma; glcNAc-1-phosphotransferase subunit gamma; UDP-N-acetylglucosamine-1-phosphotransferase subunit gamma

N-acetylglucosamine-1-phosphotransferase subunit gamma

C16orf27; GNPTAG  [Similar Products]

GNPTG_HUMAN

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]

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.

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