Bscl2 - BSCL2 lipid droplet biogenesis associated, seipin Gene

About Bscl2

Summary

Predicted to enable phospholipid binding activity. Predicted to be involved in several processes, including lipid droplet formation; positive regulation of cold-induced thermogenesis; and regulation of lipid metabolic process. Predicted to act upstream of or within several processes, including adipose tissue development; cytosolic lipolysis; and regulation of excitatory postsynaptic membrane potential involved in skeletal muscle contraction. Predicted to be located in endoplasmic reticulum membrane and lipid droplet. Predicted to be integral component of endoplasmic reticulum membrane. Used to study azoospermia. 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]