PNPLA5
Description
The PNPLA5 (patatin like phospholipase domain containing 5) is a protein-coding gene located on chromosome 22.
PNPLA5 exhibits significant triacylglycerol lipase activity, playing a role in the breakdown of fats.
PNPLA5 is also known as GS2L, dJ388M5, dJ388M5.4.
Associated Diseases
- glycoprotein storage disease
- neuronal ceroid lipofuscinosis 1
- hemoglobin H disease
- hemoglobin C-beta-thalassemia syndrome
- combined immunodeficiency due to OX40 deficiency
- familial isolated congenital asplenia
- dominant beta-thalassemia
- hemolytic anemia due to diphosphoglycerate mutase deficiency
- hereditary neutrophilia
- hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
- erythroleukemia, familial, susceptibility to
- beta-thalassemia-X-linked thrombocytopenia syndrome
- hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
- cryohydrocytosis
- thrombocytopenia, anemia, and myelofibrosis
- congenital dyserythropoietic anemia type 2
