Literature associating STARD3 and C syndrome
STARD3 [ENSP00000337446]
StAR-related lipid transfer protein 3; Sterol-binding protein that mediates cholesterol transport from the endoplasmic reticulum to endosomes (PubMed:11053434, PubMed:15930133, PubMed:22514632, PubMed:28377464). Creates contact site between the endoplasmic reticulum and late endosomes: localizes to late endosome membranes and contacts the endoplasmic reticulum via interaction with VAPA and VAPB . Acts as a lipid transfer protein that redirects sterol to the endosome at the expense of the cell membrane and favors membrane formation inside endosomes . May also mediate cholesterol transport between other membranes, such as mitochondria membrane or cell membrane . However, such results need additional experimental evidences; probably mainly mediates cholesterol transport from the endoplasmic reticulum to endosomes . Does not activate transcriptional cholesterol sensing . Able to bind other lipids, such as lutein, a xanthophyll carotenoids that form the macular pigment of the retina . ECO:0000269|PubMed:12070139, ECO:0000269|PubMed:15930133, ECO:0000269|PubMed:19965586, ECO:0000269|PubMed:21322544, ECO:0000269|PubMed:22514632, ECO:0000269|PubMed:24105263,; Belongs to the STARD3 family.
Synonyms: STARD3, STARD3p, hSTARD3, C9J555, J3KSH0 ...