Literature associating BSCL2 and autosomal recessive disease
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 ...