Phospholipase DDHD1 (DDHD1) ELISA Kit for Human

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. [provided by RefSeq, Aug 2015]

DDHD1: Probable phospholipase that hydrolyzes phosphatidic acid. The different isoforms may change the substrate specificity. Belongs to the PA-PLA1 family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 3.1.1.-; Phospholipase

Chromosomal Location of Human Ortholog: 14q22.1

Cellular Component: cytoplasm; cytosol

Molecular Function: metal ion binding; phospholipase activity

Biological Process: lipid catabolic process; phosphatidic acid biosynthetic process; positive regulation of mitochondrial fission

Disease: Spastic Paraplegia 28, Autosomal Recessive