Aliases for DDHD1 Gene
External Ids for DDHD1 Gene
Previous HGNC Symbols for DDHD1 Gene
Previous GeneCards Identifiers for DDHD1 Gene
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]
GeneCards Summary for DDHD1 Gene
DDHD1 (DDHD Domain Containing 1) is a Protein Coding gene. Diseases associated with DDHD1 include Spastic Paraplegia 28, Autosomal Recessive and Paraplegia. Among its related pathways are Acyl chain remodelling of PE and Metabolism. Gene Ontology (GO) annotations related to this gene include hydrolase activity. An important paralog of this gene is SEC23IP.
UniProtKB/Swiss-Prot Summary for DDHD1 Gene
Phospholipase that hydrolyzes phosphatidic acid, including 1,2-dioleoyl-sn-phosphatidic acid. The different isoforms may change the substrate specificity (PubMed:22922100). Required for the organization of the endoplasmic reticulum exit sites (ERES), also known as transitional endoplasmic reticulum (tER) (PubMed:17428803).