🧬 基因注释：HPDL
📝 官方信息
官方名称：4-hydroxyphenylpyruvate dioxygenase like
功能摘要：The protein encoded by this intronless gene localizes to mitochondria, where it may function as 4-hydroxyphenylpyruvate dioxygenase. Clinical studies have identified several bi-allelic variants in this gene that lower the level of the encoded protein and lead to a clinically variable form of pediatric-onset spastic movement disorder. [provided by RefSeq, Aug 2020].
🏥 关联疾病
该基因暂无关联疾病记录