Aliases for BBOX1 Gene
External Ids for BBOX1 Gene
Previous Symbols for BBOX1 Gene
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for BBOX1 Gene
BBOX1 (Butyrobetaine (Gamma), 2-Oxoglutarate Dioxygenase (Gamma-Butyrobetaine Hydroxylase) 1) is a Protein Coding gene. Diseases associated with BBOX1 include mulibrey nanism. Among its related pathways are Metabolism and Metabolism of amino acids and derivatives. GO annotations related to this gene include iron ion binding and gamma-butyrobetaine dioxygenase activity. An important paralog of this gene is TMLHE.
UniProtKB/Swiss-Prot for BBOX1 Gene
Catalyzes the formation of L-carnitine from gamma-butyrobetaine