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磷脂酶DDHD1抗体
产品介绍 靶标: DDHD1 产品别名: PA-PLA1; PAPLA1; SPG28; iPLA1I; iPLA1alpha; DDHD1; DDHD domain containing 1; DDHD domain containing 1; phospholipase DDHD1; intracellular phospholipase A1 alpha; phosphatidic acid-preferring phospholipase A1 homolog; phosphatidic acid-preferring phospholipase A1-like protein; spastic paraplegia 28 (autosomal recessive); 磷脂酶DDHD1; 背景信息: 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. 宿主:Rbt |
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