| Protein Name | 4-hydroxyphenylpyruvate dioxygenase like |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 84842 |
| Gene Symbol | HPDL |
| UniProt | Q96IR7 (HPDL_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
18
Total Number of Articles : 10 |
Description |
4-hydroxyphenylpyruvate dioxygenase like |
| Gene 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] |
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| Properties | |