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: 5264
MIM: 602026
HGNC: 8940
Ensembl: ENSG00000107537
Variants:
dbSNP: 5264
ClinVar: 5264
TCGA: ENSG00000107537
COSMIC: PHYH
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38411969 | 2024 | PHYH c.678+5G>T Leads to In-Frame Exon Skipping and Is Associated With Attenuated Refsum Disease. | 0 |
| 38411969 | 2024 | PHYH c.678+5G>T Leads to In-Frame Exon Skipping and Is Associated With Attenuated Refsum Disease. | 0 |
| 33468235 | 2021 | Prognostic role of PHYH for overall survival (OS) in clear cell renal cell carcinoma (ccRCC). | 5 |
| 33468235 | 2021 | Prognostic role of PHYH for overall survival (OS) in clear cell renal cell carcinoma (ccRCC). | 5 |
| 28681609 | 2017 | Cochlear Implantation in Siblings With Refsum's Disease. | 0 |
| 28681609 | 2017 | Cochlear Implantation in Siblings With Refsum's Disease. | 0 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
| 19834535 | 2009 | Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. | 29 |
| 19834535 | 2009 | Sequential use of transcriptional profiling, expression quantitative trait mapping, and gene association implicates MMP20 in human kidney aging. | 29 |
| 18612766 | 2008 | Non-manifesting Refsum heterozygotes carrying the c.135-2A>G PAHX gene transition. | 0 |
| 18612766 | 2008 | Non-manifesting Refsum heterozygotes carrying the c.135-2A>G PAHX gene transition. | 0 |
| 16385451 | 2006 | A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. | 83 |
| 16385451 | 2006 | A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. | 83 |
| 15930519 | 2005 | Studies on the specificity of unprocessed and mature forms of phytanoyl-CoA 2-hydroxylase and mutation of the iron binding ligands. | 5 |
Citation
Dessen P
PHYH (phytanoyl-CoA 2-hydroxylase)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/71896/phyh-(phytanoyl-coa-2-hydroxylase)
