Bscl2

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 adipose tissue development; cytosolic lipolysis; and lipid droplet formation. Located in endoplasmic reticulum. Is expressed in brown fat; early conceptus; and secondary oocyte. Used to study congenital generalized lipodystrophy type 2 and male infertility. Human ortholog(s) of this gene implicated in autosomal dominant distal hereditary motor neuronopathy 13; 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, Nov 2024]

预测该基因能够激活磷脂结合活性。参与多种生物过程，包括脂肪细胞分化、寒冷诱导的产热过程的正向调控以及脂质代谢过程的调节。在多个生物过程中发挥上游作用或位于其中，例如脂肪组织发育、细胞质脂解作用和脂滴形成。该基因定位于内质网。在棕色脂肪、早期胚胎和次级卵母细胞中表达。用于研究先天性全身性脂肪营养不良2型及男性不育。该基因的人类同源基因与常染色体显性远端遗传性运动神经元病13、先天性全身性脂肪营养不良2型、遗传性痉挛性截瘫、遗传性痉挛性截瘫17和脂肪营养不良相关。与人类BSCL2（BSCL2脂滴生物发生相关，seipin）同源。[由基因组资源联盟提供，2024年11月]