ATP8A1
Description
The ATP8A1 (ATPase phospholipid transporting 8A1) is a protein-coding gene located on chromosome 4.
ATP8A1 is a key component of the P4-ATPase flippase complex, which is responsible for the movement of aminophospholipids across cell membranes. This movement ensures the proper distribution of phospholipids within the cell, which is essential for maintaining membrane structure and function. The ATP8A1:TMEM30A flippase complex has been implicated in cell migration and vesicle formation, and it is thought to play a role in the uptake of lipid signaling molecules. ATP8A1's activity is specifically stimulated by phosphatidylserine (PS).
ATP8A1 is also known as ATPASEII, ATPIA, ATPP2.
Associated Diseases
- hemoglobin D disease
- hemoglobin E-beta-thalassemia syndrome
- dominant beta-thalassemia
- hemoglobin E disease
- delta-beta-thalassemia
- alpha-thalassemia-myelodysplastic syndrome
- hemoglobin C-beta-thalassemia syndrome
- hemolytic anemia due to diphosphoglycerate mutase deficiency
- hemoglobin H disease
- dehydrated hereditary stomatocytosis
