Analysis of ANK1 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1870-LGZ)

Introduction

Official Full Name: ankyrin 1<br />Also known as: ANK; SPH1; SPH2; ankyrin-1<br />Ankyrins, a family of proteins that link integral membrane proteins to the underlying spectin-actin cytoskeleton, play key roles in activities such as cell motility, activation, proliferation, contact, and maintenance of specialized membrane domains. Multiple isoforms of ankyrin with different affinities for different target proteins are expressed in a tissue-specific, developmentally regulated manner. Most ankyrins are typically composed of three structural domains: an amino-terminal domain containing multiple ankyrin repeats; a central region with a highly conserved spectrin binding domain; and a carboxy-terminal regulatory domain which is the least conserved ed and subject to variation. Ankyrin 1, the prototype of this family, was first found in red blood cells but has since been found in brain and muscle as well. About half of the patients with hereditary spherocytosis are associated with mutations in erythrocyte ankyrin 1. Complex patterns of alternative splicing in regulatory domains have been described, resulting in distinct ankyrin 1 isoforms. Truncation of the muscle-specific isoform of ankyrin 1 due to use of an alternative promoter has also been identified.