MAGI-2 Polyclonal Antibody, 50ul DNA Synthesis Mutations in GNPAT are associated

Mutations in GNPAT are associated with rhizomelic chondrodysplasia punctata

The protein encoded by this gene is a DNA helicase that belongs to the RecQ helicase family

ACYP2 (acylphosphatase 2) encodes the muscle-type isoform (MT)

tissue specificity:Expressed in kidney

This protein is a molecular chaperone with specific function in cell signal transduction

MAGI-2 Polyclonal Antibody, 50ul DNA Synthesis Mutations in GNPAT are associatedThe protein encoded by MAGI2 (membrane associated guanylate kinase, WW and PDZ domain containing 2)interacts with atrophin 1. Atrophin 1 contains a polyglutamine repeat, expansion of which is responsible for dentatorubral and pallidoluysian atrophy. This encoded protein is characterized by two WW domains, a guanylate kinase like domain, and multiple PDZ domains. It has structural similarity to the membrane associated guanylate kinase homologue (MAGUK)