Literature associating INSIG2 and CHILD syndrome
INSIG2 [ENSP00000245787]
Insulin-induced gene 2 protein; Mediates feedback control of cholesterol synthesis by controlling SCAP and HMGCR. Functions by blocking the processing of sterol regulatory element-binding proteins (SREBPs). Capable of retaining the SCAP-SREBF2 complex in the ER thus preventing it from escorting SREBPs to the Golgi. Seems to regulate the ubiquitin-mediated proteasomal degradation of HMGCR.
Synonyms: INSIG2, INSIG2p, hINSIG2, A0A024RAI2, A0A0C4DGZ4 ...