Analysis of EFHD1 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1764-LGZ)

Introduction

Official Full Name: EF-hand domain family member D1<br />Also known as: SWS2; MST133; PP3051; MSTP133<br />This gene encodes a member of the EF-hand calcium-binding protein superfamily, which is involved in a variety of cellular processes, including mitosis, synaptic transmission, and cytoskeletal rearrangement. The protein encoded by this gene consists of an N-terminal disordered region, proline-rich elements, two EF-hands and a C-terminal coiled-coil domain. This protein has been shown to associate with the inner mitochondrial membrane and act as a novel mitochondrial calcium sensor for mitochondrial flash activation in HeLa cells. Alternative splicing results in multiple transcript variants.