Analysis of DDHD1 Gene (Mutation) by RT-qPCR (CAT#: STEM-MT-2497-LGZ)

Introduction

Official Full Name: DDHD domain containing 1<br />Also known as: SPG28; PAPLA1; iPLA1I; PA-PLA1; iPLA1alpha<br />This gene is a member of the intracellular phospholipase A1 gene family. The protein encoded by this gene preferentially hydrolyzes phosphatidic acid. It is a cytoplasmic protein with a mitochondrial localization and is thought to be involved in the regulation of mitochondrial dynamics. Overexpression of this gene results in disruption of mitochondrial tubule structure, whereas deletion of this gene results in elongation of mitochondrial tubules. In male mice, loss of this gene caused reproductive defects due to disruption of mitochondrial organization during sperm formation. In humans, mutations in this gene are associated with hereditary spastic paraplegia (HSP), also known as Strumpell-Lorrain disease, or familial spastic paraplegia (FSP). This genetic disorder is characterized by progressive weakness and leg cramps. Alternative splicing results in multiple transcript variants encoding different isoforms.