Analysis of FANCD2 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1825-LGZ)

Introduction

Official Full Name: FA complementation group D2<br />Also known as: FA4; FAD; FACD; FAD2; FA-D2; FANCD<br />The Fanconi Anemia Complementation Panel (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also known as BRCA2), FANCD2, FANCB, FANCF, FANCG, FANCI, FANCJ (also known as BRIP1), FANCL, FANCM, and FANCN (also known as PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA cross-linking agents, increased chromosomal breakage, and defective DNA repair. Members of the Fanconi anemia complementation group share no sequence similarity; they are related by assembly into a common nucleoprotein complex. This gene encodes a protein of the D2 complementation group. This protein is monodiquininated in the DNA damage response, leading to its localization to nuclear foci along with other proteins involved in homologous DNA repair (BRCA1 and BRCA2). Alternative splicing results in multiple transcript variants.