Target intelligence / Profile preview

Phospholipid-transporting ATPase ID (ATP8B2)

Target
ATP8B2
Molecular classification
Enzyme, Transporter, P-type ATPase, P4-ATPase flippase
01

Overview

Phospholipid-transporting ATPase ID (ATP8B2) is a member of the P-type cation transport ATPases, specifically the P4-ATPase family, which functions as a phospholipid flippase. It utilizes ATP hydrolysis to transport specific phospholipids, primarily phosphatidylcholine (PC) and plasmalogens, from the exoplasmic to the cytoplasmic leaflet of the plasma membrane, helping to maintain membrane lipid asymmetry essential for cellular processes. ATP8B2 activity is crucial for normal neurological development and liver function, with mutations causing non-syndromic intellectual disability and recurrent cholestasis. Proper localization and activity require interaction with the CDC50A protein, and ATP8B2 has partially redundant or overlapping functions with other P4-ATPases such as ATP8B1. The physiological and pharmacological targeting of ATP8B2 is not fully established, but its central role in membrane homeostasis marks it as a potential therapeutic target for related disorders[1][2][3][5].

Other names
Aminophospholipid-transporting ATPaseP4-ATPase flippase complex alpha subunit ATP8B2ATPIDKIAA1137ATPase class I type 8B member 2probable phospholipid-transporting ATPase IDphospholipid-transporting ATPase ID36/8-9 fusion protein with epitope for anti-lectin antibodyATPase, aminophospholipid transporter, class I, type 8B, member 2ATPase, class I, type 8B, member 2
02

Mechanism of action

ATP hydrolysis-coupled "flippase" activity to move phospholipids from one membrane leaflet to another, altering membrane composition and function[2][3][5] Dependent on interaction with CDC50A for proper trafficking and enzymatic activity[3][5]

03

Biological functions

Maintenance of plasma membrane lipid asymmetryTranslocation ("flipping") of phospholipids such as phosphatidylcholine (PC), plasmalogens, possibly phosphatidylserine (PS) and phosphatidylinositol (PI), from the outer to the inner leaflet of the plasma membraneRegulating membrane composition to influence signal transduction pathways (e.g., AKT pathway)
04

Disease associations

Neurodevelopmental disorders (e.g., intellectual disability)Liver diseases (e.g., benign recurrent intrahepatic cholestasis)Potential roles in cardiovascular and other membrane-associated disorders
05

Safety considerations

Potential for adverse effects related to disruption of membrane asymmetry such as cell signaling defects, neurodevelopmental and hepatic complications in case of deficiency or mutation[1][3]
06

Biomarkers

Genetic variants/mutations associated with intellectual disability[1][3]

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