DISEASES

Disease-gene associations mined from literature

Literature associating PLTP and Tangier disease

PLTP [ENSP00000417138]

Phospholipid transfer protein; Facilitates the transfer of a spectrum of different lipid molecules, including diacylglycerol, phosphatidic acid, sphingomyelin, phosphatidylcholine, phosphatidylglycerol, cerebroside and phosphatidyl ethanolamine. Essential for the transfer of excess surface lipids from triglyceride-rich lipoproteins to HDL, thereby facilitating the formation of smaller lipoprotein remnants, contributing to the formation of LDL, and assisting in the maturation of HDL particles. PLTP also plays a key role in the uptake of cholesterol from peripheral cells and tissues that is subsequently transported to the liver for degradation and excretion. Two distinct forms of PLTP exist in plasma: an active form that can transfer PC from phospholipid vesicles to high-density lipoproteins (HDL), and an inactive form that lacks this capability; Belongs to the BPI/LBP/Plunc superfamily. BPI/LBP family.

Synonyms:  PLTP,  B3KUE5,  P55058,  PLTP-001,  PLTP-002 ...

Linkouts:  STRING  Pharos  UniProt