DDHD domain-containing protein 2 (DDHD2)

DDHD domain-containing protein 2 (DDHD2) is a phospholipase enzyme and triacylglycerol hydrolase that regulates lipid homeostasis in the central nervous system by catalyzing the hydrolysis of diacylglycerol and triacylglycerol and also acting as a phospholipase, preferably hydrolyzing phosphatidic acids. It contains functionally significant SAM, WWE, and DDHD domains, and participates in intracellular membrane trafficking, including mediating pathways between the endoplasmic reticulum and the Golgi apparatus. Mutations in DDHD2 disrupt lipid metabolism and trafficking and are associated with autosomal recessive spastic paraplegia type 54, a progressive neurodegenerative disease, as well as generalized epilepsy. The enzyme is widely expressed at the cytoplasmic level, especially in neural tissues, and is essential for neuronal triacylglycerol breakdown and membrane function.

Other names

Triacylglycerol hydrolase DDHD2KIAA0725SAMWD1TAG hydrolaseSPG54p125BiPLA1gammaiPLA1γIntracellular phospholipase A1 gammaPhospholipase DDHD2Triglyceride hydrolase DDHD2Triglyceride lipasePA-PLA1 likeSec23p-interacting protein p125-like phosphatidic acid-preferring phospholipase A1EC 3.1.1.3KIAA0725pSAMWWE and DDHD domain-containing protein 1IPLA1AIPLA1G