Eurofins DiscoverX PhKγ2 Protein, Active

Product Code. 17320584

Brand: Eurofins DiscoverX 14698

Description

Active, GST-tagged, recombinant, PhKγ2, amino acids 1-301 containing the mutation F290L, for use in Kinase Assays.

Phosphorylase kinase (Phk) is a complex enzyme consisting of four different subunits, (abgd)4, and isoforms or splice variants exist for each subunit. A muscle specific form of Phk deficiency is caused by mutations in the gene for the muscle isoform of the a subunit, PHKA1, whereas liver Phk deficiency can be caused by mutations in three genes: PHKA2, PHKB, and PHKG2. PHKB mutations cause autosomal recessive Phk deficiency of both liver and muscle, but liver symptoms predominate and the biochemical muscle involvement is often not clinically apparent. Ten different mutations in the PHKB gene have been identified in seven patients. PHKG2, also autosomal, encodes the testis/liver isoform of the catalytic g subunit. PHKG2 is a serine/threonine kinase that plays an important role in glycogen metabolism. Inhibition of PHKG2 may result in recurrent hypoglycemia, liver fibrosis and increased risk of cirrhosis.

GenBank NM_000294. The recombinant protein contains the amino acid substitution F290L with respect to this accession number. Inhibition studies on recombinant PhKγ2 F290L exhibit a trend similar to that observed with the wild-type PhK holoenzyme using the inhibitors K252a, Bis-5 and Ro 318220 (Davies et al., (2000), Biochem. J. 351, 95-105, Elliott, et al., (1990), Biochem. Biophys. Res. Commun. 171,148-154)

Specifications

• Formulation: mg/mL of enzyme in 50 mM Tris/HCl pH 7.5, 300 mM NaCl, 0.1 mM EGTA, 0.03% Brij-35, 270 mM sucrose, 1 mM benzamidine, 0.2 mM PMSF, 0.1% 2-mercaptoethanol. Frozen solution.
• Molecular Weight (g/mol): 61.4 kDa
• Quantity: 10 μg
• Species: Human
• Recombinant: Recombinant
• Protein Tag: N-terminal GST
• Expression System: Recombinant enzyme expressed in E. coli cells
• Protein Form: Truncated
• Purity or Quality Grade: ≥72%
• Protein: PhKγ2, active