Phospholipase DDHD1 (DDHD1)

Phospholipase DDHD1 (abbreviated as DDHD1) is an intracellular phospholipase A1 enzyme that preferentially hydrolyzes the sn-1 ester bond of phospholipids, particularly phosphatidic acid, resulting in the production of lysophospholipids and free fatty acids[3]. It contains a characteristic DDHD domain, named after its conserved amino acid motif. The protein is predominantly cytosolic but also localizes to mitochondria, where it regulates mitochondrial morphology and lipid composition. DDHD1 plays a crucial role in mitochondrial membrane remodeling, organelle biogenesis, and lipid signaling. In humans, DDHD1 dysfunction caused by genetic mutations leads to hereditary spastic paraplegia type 28 (SPG28), a neurodegenerative disorder marked by progressive spasticity and weakness in the lower limbs[1][2][3]. DDHD1 is also implicated in mitochondrial function and male fertility, with deficiency resulting in abnormal mitochondria during sperm development. While no specific drugs targeting DDHD1 are clinically established, genetic variants in DDHD1 serve as key biomarkers for autosomal recessive spastic paraplegia[3].

Other names

DDHD1KIAA1705PA-PLA1iPLA1αPAPLA1intracellular phospholipase A1 alphaphosphatidic acid-preferring phospholipase A1SPG28phospholipid sn-1 acylhydrolasephosphatidic acid-preferring phospholipase A1 homolog