Gene Symbol | BBOX1 |
Entrez Gene ID | 8424 |
Full Name | gamma-butyrobetaine hydroxylase 1 |
Synonyms | BBH,BBOX,G-BBH,gamma-BBH |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: |