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HPDL

Official Full Name
4-hydroxyphenylpyruvate dioxygenase like
Organism
Homo sapiens
GeneID
84842
Background
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]
Synonyms
SPG83; GLOXD1; NEDSWMA; 4-HPPD-L;

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