Analysis of STIM1 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-2161-LGZ)

Introduction

Official Full Name: stromal interaction molecule 1<br />Also known as: GOK; TAM; TAM1; IMD10; STRMK; D11S4896E<br />This gene encodes a type 1 transmembrane protein that mediates Ca2+ influx after depletion of intracellular Ca2+ stores by controlling store-operated Ca2+ influx channels (SOC). It is one of several genes located in the imprinted gene domain of 11p15.5, an important tumor suppressor gene region. Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenal adenocarcinoma, lung cancer, ovarian cancer, and breast cancer. This gene may play a role in malignancies and diseases involving this region, as well as in early hematopoiesis, by mediating attachment to stromal cells. Mutations in this gene are associated with fatal classical Kaposi's sarcoma, immunodeficiency due to fibroblast storage calcium entry deficiency (SOCE), ectodermal dysplasia, and tubular aggregate myopathy. The gene and ribonucleotide reductase 1 gene (RRM1) are in an end-to-end structure, and the 3' end of the gene is located at 1.6 kb from the 5' end of the RRM1 gene. Alternative splicing of this gene results in multiple transcript variants.