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Key Features

Human POMGNT1 Recombinant Protein (RPES2377)

SKU RPES2377
Product Type Recombinant Protein
Species Human
$376 - $851
Global Shipping: 80+ Countries
White Glove Service: Available upon request
Batch Consistency: Contact Sales
Distributors: 60+ Countries

Description

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Human POMGNT1 Recombinant Protein

Protein O-Linked-Mannose β-1 2-N-Acetylglucosaminyltransferase 1 (POMGNT1) belongs to the Glycosyltransferase 13 family. Amino acid residues between 299-311 are important for both protein expression and enzymatic activity. The minimal catalytic domain is located between positions 299-651. It is suggested that the stem domain of the soluble form is unnecessary for activity, but that some amino acids play a crucial role in the membrane-bound form. Defects in POMGNT1 are the cause of muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies type A3 (MDDGA3).

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