闈舵爣锛欬p style="text-indent: 2em;">DDHD1

浜у搧鍒悕锛欬p style="text-indent: 2em;">PA-PLA1锛 PAPLA1锛 SPG28锛 iPLA1I锛 iPLA1alpha锛 DDHD1锛 DDHD domain containing 1锛 DDHD domain containing 1锛 phospholipase DDHD1锛 intracellular phospholipase A1 alpha锛 phosphatidic acid-preferring phospholipase A1 homolog锛 phosphatidic acid-preferring phospholipase A1-like protein锛 spastic paraplegia 28 (autosomal recessive)锛 纾疯剛閰禗DHD1锛

鑳屾櫙淇℃伅锛欬div style="text-indent: 2em;">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 cytosolic protein with some mitochondrial localization, and is thought to be involved in the regulation of mitochondrial dynamics. Overexpression of this gene causes fragmentation of the tubular structures in mitochondria, while depletion of the gene results in mitochondrial tubule elongation. Deletion of this gene in male mice caused fertility defects, resulting from disruption in the organization of the mitochondria during spermiogenesis. In humans, mutations in this gene have been associated with hereditary spastic paraplegia (HSP), also known as Strumpell-Lorrain disease, or, familial spastic paraparesis (FSP). This inherited disorder is characterized by progressive weakness and spasticity of the legs. Alternative splicing results in multiple transcript variants encoding different isoforms.