🧬 基因注释：BBOX1
📝 官方信息
官方名称：gamma-butyrobetaine hydroxylase 1
功能摘要：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].
🏥 关联疾病
该基因暂无关联疾病记录