Bscl2 - Berardinelli-Seip congenital lipodystrophy 2 (seipin)

Predicted to enable phospholipid binding activity. Involved in several processes, including fat cell differentiation; positive regulation of cold-induced thermogenesis; and regulation of lipid metabolic process. Acts upstream of or within several processes, including cytosolic lipolysis; lipid droplet formation; and regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction. Located in endoplasmic reticulum. Is expressed in early conceptus and secondary oocyte. Used to study congenital generalized lipodystrophy type 2 and male infertility. Human ortholog(s) of this gene implicated in congenital generalized lipodystrophy type 2; hereditary spastic paraplegia; hereditary spastic paraplegia 17; and lipodystrophy. Orthologous to human BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin). [provided by Alliance of Genome Resources, Apr 2022]