Analysis of LMNA Gene (Mutation) in Primary Familial Hypertrophic Cardiomyopathy by RT-qPCR (CAT#: STEM-MT-0146-LGZ)

Introduction

Also known as: FPL; IDC; LFP; CDDC; EMD2; FPLD; HGPS; LDP1; LMN1; LMNC; MADA; PRO1; CDCD1; CMD1A; FPLD2; LMNL1; CMT2B1; LGMD1B<br />The protein encoded by this gene is part of the nuclear lamina, the two-dimensional protein matrix next to the nuclear membrane. The laminin family constitutes the matrix and is highly conserved during evolution. During mitosis, the lamellar matrix is reversibly disassembled due to phosphorylation of laminin. Laminin is thought to be involved in nuclear stability, chromatin structure and gene expression. The lamellae of vertebrates consist of two types, A and B. Alternative splicing results in multiple transcript variants. Mutations in this gene lead to several diseases: Emery-Dreifuss muscular dystrophy, familial partial lipodystrophy, limb girdle muscular dystrophy, dilated cardiomyopathy, Charcot-Marie-Tooth disease, and Hutchinson-Gilford progeria syndrome.