Disease-gene associations mined from literature

Literature associating BSCL2 and familial partial lipodystrophy type 3

BSCL2 [ENSP00000354032]

Bernardinelli-Seip congenital lipodystrophy type 2 protein; Is a regulator of lipid catabolism essential for adipocyte differentiation. May also be involved in the central regulation of energy homeostasis (By similarity). Necessary for correct lipid storage and lipid droplets maintenance; may play a tissue-autonomous role in controlling lipid storage in adipocytes and in preventing ectopic lipid droplet formation in non-adipose tissues.

Synonyms:  BSCL2,  BSCL2p,  hBSCL2,  A0A024R540,  A0A024R549 ...

Linkouts:  STRING  Pharos  UniProt  OMIM