BBOX1, Official Symbol BBOX1provided by HGNC Official Full Name gamma-butyrobetaine hydroxylase 1provided by HGNC Primary source HGNC:HGNC:964 See related Ensembl:ENSG00000129151 MIM:603312; AllianceGenome:HGNC:964 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as BBH; BBOX; G-BBH; gamma-BBH Summary 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] Expression Biased expression in kidney (RPKM 100.1), liver (RPKM 20.3) and 3 other tissues See more Orthologs mouse all