Gene:
butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1
Gene ID:
197795
Symbol:
BBOX1
Species:
1000
Description:
This gene encodes gamma butyrobetaine hydroxylase which catalyzes the formation of L-carnitine from gamma-butyrobetaine, the last step in the L-carnitine biosynthetic pathway. Carnitine is essential for the transport of activated fatty acids across the mitochondrial membrane during mitochondrial beta-oxidation. This protein is 387 amino acids with a predicted molecular weight of 44.7 kDa. Its expression is high in kidney, moderate in liver, and very low in brain, while no expression was detected in other investigated tissues.