Aliases for DDHD2 Gene
External Ids for DDHD2 Gene
Previous HGNC Symbols for DDHD2 Gene
Previous GeneCards Identifiers for DDHD2 Gene
This gene encodes a phospholipase enzyme containing sterile-alpha-motif (SAM), WWE, and DDHD domains. This protein participates in membrane trafficking between the endoplastic reticulum and the Golgi body. Mutations in this gene can cause autosomal recessive spastic paraplegia 54. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
GeneCards Summary for DDHD2 Gene
DDHD2 (DDHD Domain Containing 2) is a Protein Coding gene. Diseases associated with DDHD2 include Spastic Paraplegia 54, Autosomal Recessive and Epilepsy, Idiopathic Generalized. 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 DDHD2 Gene
Phospholipase that hydrolyzes preferentially phosphatidic acid, including 1,2-dioleoyl-sn-phosphatidic acid, and phosphatidylethanolamine. Specifically binds to phosphatidylinositol 3-phosphate (PI(3)P), phosphatidylinositol 4-phosphate (PI(4)P), phosphatidylinositol 5-phosphate (PI(5)P) and possibly phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2). May be involved in the maintenance of the endoplasmic reticulum and/or Golgi structures. May regulate the transport between Golgi apparatus and plasma membrane.