HPDL 4-hydroxyphenylpyruvate dioxygenase like [ Homo sapiens (human) ] - Gene - Data resources

84842

HPDL 4-hydroxyphenylpyruvate dioxygenase like [ Homo sapiens (human) ]
Source: NCBI Gene (ID 84842)

Symbol: HPDL

Full name: 4-hydroxyphenylpyruvate dioxygenase like

Gene type: protein coding

RefSeq status: VALIDATED

Also known as: 4-HPPD-L; GLOXD1; NEDSWMA; SPG83

Summary: 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]

Orthologs: mouse

Gene size: 1816bp

Exon count: 1