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Phospholipase that hydrolyzes preferentially phosphatidic acid and phosphatidylethanolamine. Additionally we are shipping DDHD2 Proteins (5) and DDHD2 Kits (4) and many more products for this protein.
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A set of HSP-related mutations in DDHD2 disrupt triglyceride hydrolase activity in vitro and impair the capacity of DDHD2 to protect cells from lipid droplet accumulation after exposure to free fatty acid.Genetic inactivation of DDHD2 from HSP-associated mutations perturbs lipid homeostasis and the formation and content of LDs. DDHD2 plays a role in triglyceride metabolism for normal CNS function.
Truncating mutation has been found in the DDHD2 gene in a large consanguineous family with hereditary spastic paraplegia and intellectual disability.
Our results provide an extensive genome wide set of targets for miR-503, miR-103, and miR-494, and suggest that miR-503 may act as a tumor suppressor in breast cancer by its direct non-canonical targeting of DDHD2.
Three missense mutations including p.Val220Phe of DDHD2 significantly reduced PLA1 activity and indicated that the loss of PLA1 activity significantly contributes to SPG54 pathogenicity.
study reports two Italian brothers with autosomal recessive hereditary spastic paraplegia with thin corpus callosum due to two deleterious compound heterozygous missense mutations that have been identified in the DDHD2 gene by exome sequencing
The DDHD2 gene shows a low mutation frequency in a general population of complicated hereditary spastic paraparesis
Two deleterious mutations in the phospholipase DDHD2 gene in two families with complicated Hereditary spastic paraplegias.
mutations in DDHD2 cause a specific complex HSP subtype (SPG54), thereby linking a member of the PLA(1) family to human neurologic disease.
KIAAO725p is targeted to specific organelle membranes in a phosphoinositide-dependent manner.
KIAA0725p is localized in the Golgi [KIAA0725p]
Data show that FGFR1 and DDHD2 at 8p12 cooperated functionally with MYC, whereas CCND1 and ZNF703 cooperated with a dominant negative form of TP53.
Lipid droplets from brain tissue of DDHD2(-/-) mice contain both established LD-associated proteins identified previously in other organs and CNS-enriched proteins, including several proteins with genetic links to human neurological disease.
DDHD2(-/-) mice show age-dependent triacylglycerol elevations in the central nervous system, but not in several peripheral tissues.
Phospholipase that hydrolyzes preferentially phosphatidic acid and phosphatidylethanolamine. May be involved in the maintenance of the endoplasmic reticulum and/or Golgi structures.
DDHD domain containing 2
, phospholipase DDHD2
, Sec23-interacting protein p125-like
, phospholipase DDHD2-like
, DDHD domain-containing protein 2
, PA-PLA1 like
, SAM, WWE and DDHD domain containing 1
, SAM, WWE and DDHD domain-containing protein 1
, sec23p-interacting protein p125-like phosphatidic acid-preferring phospholipase A1