Involved in fermentation and protein maturation. Acts upstream of or within phospholipid homeostasis. Located in mitochondrion. Human ortholog(s) of this gene implicated in Alkuraya-Kucinskas syndrome. Orthologous to human BLTP1 (bridge-like lipid transfer protein family member 1).
SGD Description
Protein with structural similarity to lipid transport protein Vps13p; localizes to multiple membrane contact sites between organelles; role in phospholipid homeostasis and lipidomic adaptation to cold; required for fermentation at low temperature; plays a role in phosphatidylethanolamine metabolism and secretory protein maturation; non-tagged protein is detected in highly purified mitochondria in HTP studies