Aliases for BBOX1 Gene
External Ids for BBOX1 Gene
Previous HGNC Symbols for BBOX1 Gene
Previous GeneCards Identifiers 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 (Gamma-Butyrobetaine Hydroxylase 1) is a Protein Coding gene. Diseases associated with BBOX1 include Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2H and Opitz-Gbbb Syndrome. Among its related pathways are Metabolism and Viral mRNA Translation. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors. An important paralog of this gene is TMLHE.
UniProtKB/Swiss-Prot for BBOX1 Gene
Catalyzes the formation of L-carnitine from gamma-butyrobetaine.