Analysis of AMPD3 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-2198-LGZ)

Introduction

Official Full Name: adenosine monophosphate deaminase 3
This gene encodes a member of the AMP deaminase gene family. The encoded protein is a highly regulated enzyme that catalyzes the hydrolytic deamination of adenosine monophosphate to inosine monophosphate, a branch point in the adenylate catabolic pathway. This gene encodes the erythroid (E) isoform, whereas other family members encode isoforms predominantly found in muscle (M) and liver (L) cells. Mutations in this gene cause clinically asymptomatic autosomal recessive erythrocytic AMP deaminase deficiency. Alternative splicing transcript variants encoding different isoforms of this gene have been described.