Disease-gene associations mined from literature

Literature associating PLIN1 and familial partial lipodystrophy type 4

PLIN1 [ENSP00000300055]

Lipid droplet-associated protein; Modulator of adipocyte lipid metabolism. Coats lipid storage droplets to protect them from breakdown by hormone- sensitive lipase (HSL). Its absence may result in leanness. Plays a role in unilocular lipid droplet formation by activating CIDEC. Their interaction promotes lipid droplet enlargement and directional net neutral lipid transfer. May modulate lipolysis and triglyceride levels; Belongs to the perilipin family.

Synonyms:  PLIN1,  PLIN1p,  hPLIN1,  H0YM16,  O60240 ...

Linkouts:  STRING  Pharos  UniProt  OMIM