Rabbit anti-Human GNPTG Polyclonal Antibody | anti-GNPTG antibody

GNPTG, CT (GNPTG, C16orf27, GNPTAG, N-acetylglucosamine-1-phosphotransferase subunit gamma, GlcNAc-1-phosphotransferase subunit gamma, UDP-N-acetylglucosamine-1-phosphotransferase subunit gamma) (MaxLight 650)

Cat. Num. AAA6303125

• Gene Names: GNPTG; RJD9; GNPTAG; LP2537; C16orf27
• Reactivity: Human
• Applications: Western Blot
• Purity: Purified by Protein A Affinity Chromatography.
• Synonyms: GNPTG; Polyclonal Antibody; CT (GNPTG; C16orf27; GNPTAG; N-acetylglucosamine-1-phosphotransferase subunit gamma; GlcNAc-1-phosphotransferase subunit gamma; UDP-N-acetylglucosamine-1-phosphotransferase subunit gamma) (MaxLight 650); UDP-N-acetylglucosamine-1-phosphotransferase subunit gamma; anti-GNPTG antibody

• Host: Rabbit
• Reactivity: Human
• Clonality: Polyclonal
• Isotype: IgG
• Purity/Purification: Purified by Protein A Affinity Chromatography.
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with MaxLight650.

• Applicable Applications for anti-GNPTG antibody: Western Blot (WB), FLISA
• Application Notes: WB: 1:100-500; FLISA: 1:1,000; Applications are based on unconjugated antibody.
• Immunogen: GNPTG antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 265-296 amino acids from the C-terminal region of human GNPTG.
• Conjugate: MaxLight650
• Note: Preservative Free
• Preparation and Storage: Store product at 4 degree C in the dark. DO NOT FREEZE! Stable at 4 degree C for 12 months after receipt as an undiluted liquid. Dilute required amount only prior to immediate use. Further dilutions can be made in assay buffer. Caution: MaxLight650 conjugates are sensitive to light. For maximum recovery of product, centrifuge the original vial prior to removing the cap.

Related Product Information for anti-GNPTG antibody

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.

Product Categories/Family for anti-GNPTG antibody

Antibodies; KIAA; orf

References

Kang, C., et al. N. Engl. J. Med. 362(8):677-685(2010). Qian, Y., et al. J. Biol. Chem. 285(5):3360-3370(2010). Pohl, S., et al. Am. J. Med. Genet. A 152A (1), 124-132 (2010): Encarnacao, M., et al. Clin. Genet. 76(1):76-84(2009). Persichetti, E., et al. Hum. Mutat. 30(6):978-984(2009).

NCBI and Uniprot Product Information

• NCBI GI #: 14249738
• NCBI GeneID: 84572
• NCBI Accession #: NP_115909.1
• NCBI GenBank Nucleotide #: NM_032520.4
• UniProt Accession #: Q9UJJ9; Q6XYD7; Q96L13; B2R556
• Molecular Weight: 33,974 Da
• NCBI Official Full Name: N-acetylglucosamine-1-phosphotransferase subunit gamma
• NCBI Official Synonym Full Names: N-acetylglucosamine-1-phosphate transferase, gamma subunit
• NCBI Official Symbol: GNPTG
• NCBI Official Synonym Symbols: RJD9; GNPTAG; LP2537; C16orf27
• NCBI Protein Information: N-acetylglucosamine-1-phosphotransferase subunit gamma; glcNAc-1-phosphotransferase subunit gamma; UDP-N-acetylglucosamine-1-phosphotransferase subunit gamma
• UniProt Protein Name: N-acetylglucosamine-1-phosphotransferase subunit gamma
• Protein Family: N-acetylglucosamine-1-phosphotransferase
• UniProt Gene Name: GNPTG
• UniProt Synonym Gene Names: C16orf27; GNPTAG
• UniProt Entry Name: GNPTG_HUMAN

Uniprot Description

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.