Gene Data From HGNC: https://www.genenames.org/download/statistics-and-files/
Symbol:
BBOX1
Name:
gamma-butyrobetaine hydroxylase 1
Location:
11p14.2
Locus Group:
protein-coding gene
Gene Type:
Protein Coding
Locus Type:
gene with protein product
DrugMatrix Data: https://cebs.niehs.nih.gov/cebs/paper/15670
DrugMatrix Gene Data For: 1 Matched Gene
Gene Name: butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1
Symbol:
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.