Phosphatidic acid is released following cell activation and functions as a second messenger in several signaling pathways. DDHD1 is a lipase that catalyzes degradation of phosphatidic acid and attenuates cell activation.
Function:
Phospholipase that hydrolyzes phosphatidic acid, including 1,2-dioleoyl-sn-phosphatidic acid. The different isoforms may change the substrate specificity.
Subunit:
Forms homooligomers and, to a much smaller extent, heterooligomers with DDHD2.
Subcellular Location:
Cytoplasmic
Tissue Specificity:
Highly expressed in testis. Also expressed in brain, spleen and lung. Only expressed in cerebellum in fetal brain.
DISEASE:
Spastic paraplegia 28, autosomal recessive (SPG28) [MIM:609340]: A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Some SPG28 patients also have distal sensory impairment. Note=The disease is caused by mutations affecting the gene represented in this entry.
Similarity:
Belongs to the PA-PLA1 family.
Contains 1 DDHD domain.
SWISS:
Q8NEL9
Gene ID:
80821
Database links:
Entrez Gene: 80821 Human
Entrez Gene: 114874 Mouse
Entrez Gene: 305816 Rat
Omim: 61923 Human
SwissProt: Q8NEL9 Human
SwissProt: Q80YA3 Mouse
Unigene: 125525 Human
Unigene: 121918 Mouse
Unigene: 163271 Rat
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