Function as phospholipase selective for phosphatidylcholine (PubMed:8530346, PubMed:9582313). Implicated as a critical step in numerous cellular pathways, including signal transduction, membrane trafficking, and the regulation of mitosis. May be involved in the regulation of perinuclear intravesicular membrane traffic (By similarity).
Cardiac valvular defect, developmental
CVDD
An autosomal recessive form of congenital heart defects, characterized by valvular malformations involving the pulmonic, tricuspid and mitral valves.
None
The disease is caused by variants affecting the gene represented in this entry.
Belongs to the phospholipase D family.
Expressed abundantly in the pancreas and heart and at high levels in brain, placenta, spleen, uterus and small intestine.
Proteins
124184Da
We found 6 products in 2 categories
ab233238
ab189191
ab240563