Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 84842
HGNC: 28242
Ensembl: ENSG00000186603
Variants:
dbSNP: 84842
ClinVar: 84842
TCGA: ENSG00000186603
COSMIC: HPDL
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000186603 | ENST00000334815 | Q96IR7 |
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38286980 | 2024 | A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review. | 0 |
| 38286980 | 2024 | A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review. | 0 |
| 35985664 | 2022 | HPDL mutations identified by exome sequencing are associated with infant neurodevelopmental disorders. | 3 |
| 35985664 | 2022 | HPDL mutations identified by exome sequencing are associated with infant neurodevelopmental disorders. | 3 |
| 33188300 | 2021 | Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition. | 11 |
| 33970200 | 2021 | Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. | 19 |
| 34515336 | 2021 | Novel bi-allelic HPDL variants cause hereditary spastic paraplegia in a Chinese patient. | 1 |
| 33188300 | 2021 | Biallelic variants in HPDL, encoding 4-hydroxyphenylpyruvate dioxygenase-like protein, lead to an infantile neurodegenerative condition. | 11 |
| 33970200 | 2021 | Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. | 19 |
| 34515336 | 2021 | Novel bi-allelic HPDL variants cause hereditary spastic paraplegia in a Chinese patient. | 1 |
Citation
Dessen P
HPDL (4-hydroxyphenylpyruvate dioxygenase like)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/64414/hpdl-(4-hydroxyphenylpyruvate-dioxygenase-like)
