ATP8B3
Description
The ATP8B3 (ATPase phospholipid transporting 8B3) is a protein-coding gene located on chromosome 19.
The human gene ATP8B3 encodes the protein ATPase, aminophospholipid transporter, class I, type 8B, member 3. This protein is a member of the P-type cation transport ATPase family, specifically the aminophospholipid-transporting ATPase subfamily. These enzymes move phosphatidylserine and phosphatidylethanolamine across membranes. The ATP8B3 gene produces different protein isoforms due to alternative splicing of its transcript.
ATP8B3 acts as a flippase, moving aminophospholipids from the outer to the inner leaflet of cellular membranes. This movement is essential for maintaining the asymmetric distribution of phospholipids within the membrane. ATP8B3's activity is linked to the hydrolysis of ATP, providing the energy for this transport. The translocation of phospholipids is also implicated in processes like vesicle formation and the uptake of signaling molecules. In spermatozoa, ATP8B3 is thought to maintain the asymmetric distribution of phosphatidylserine (PS) within the membrane, which is crucial for acrosome reactions and the binding of sperm to the zona pellucida.
ATP8B3 is also known as ATPIK.
Associated Diseases
- male infertility with teratozoospermia due to single gene mutation
- female infertility due to oocyte meiotic arrest
- spermatogenic failure 3
- spermatogenic failure 61
- spermatogenic failure 74
- spermatogenic failure 73
- spermatogenic failure 7
- spermatogenic failure 29
- spermatogenic failure 26
- spermatogenic failure 31
- partial chromosome Y deletion
- spermatogenic failure 52
- spermatogenic failure 23
