Analysis of ATAD3A Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-1258-LGZ)

Introduction

Official Full Name: ATPase family AAA domain containing 3A
Also known as: HAYOS; PHRINL
This gene encodes a ubiquitously expressed mitochondrial membrane protein involved in mitochondrial dynamics, nucleoid organization, protein translation, cell growth and cholesterol metabolism. This gene is a member of the atpase family, which contains three gene families in humans that include two other similar genes. Naturally occurring mutations in this gene have been associated with different neurological syndromes, including Harrell-Yoon syndrome. High levels of expression of this gene are associated with poor survival in breast cancer patients. In mice, homozygous knockout of the homologous gene causes embryonic lethality at 7.5 days due to growth retardation and developmental defects of the trophoblast lineage. Alternative splicing results in multiple transcript variants.