PHYH Chromosome 10
Phytanoyl-CoA 2-hydroxylase
Upload your DNA to see your personal genotypes for variants in PHYH.
What This Gene Does
This gene is a member of the PhyH family and encodes a peroxisomal protein that is involved in the alpha-oxidation of 3-methyl branched fatty acids. Specifically, this protein converts phytanoyl-CoA to 2-hydroxyphytanoyl-CoA. Mutations in this gene have been associated with Refsum disease (RD) and deficient protein activity has been associated with Zellweger syndrome and rhizomelic chondrodysplasia punctata. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Associated Conditions (30)
Phytanic acid storage disease
Nonsyndromic cleft lip palate
Inborn genetic diseases
Retinal dystrophy
Retinitis pigmentosa
PHYH-related disorder
Phytanoyl-CoA hydroxylase deficiency
Colon adenocarcinoma
Thymoma
Sarcoma
Acute myeloid leukemia
Malignant tumor of esophagus
Nonpapillary renal cell carcinoma
Familial cancer of breast
Intellectual disability
Optic atrophy
Vitamin D-dependent rickets type II with alopecia
Gastric cancer
Melanoma
Adrenocortical carcinoma
+10 more conditions
Key Variants
RS115198308
Conflicting classifications of pathogenicity
Phytanic acid storage disease, Phytanic acid storage disease
Health Risk
RS143734330
Conflicting classifications of pathogenicity
Phytanic acid storage disease, Phytanic acid storage disease
Health Risk
RS143957922
Conflicting classifications of pathogenicity
Phytanic acid storage disease, Phytanic acid storage disease
Health Risk
RS145404396
Conflicting classifications of pathogenicity
Nonsyndromic cleft lip palate, Phytanic acid storage disease, Nonsyndromic cleft lip palate
Health Risk
RS146190978
Conflicting classifications of pathogenicity
Health Risk
RS148951882
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1835617888
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS201499815
Conflicting classifications of pathogenicity
Retinitis pigmentosa, Phytanic acid storage disease, Retinal dystrophy
Health Risk
RS201936962
Conflicting classifications of pathogenicity
Phytanic acid storage disease, Inborn genetic diseases, Intellectual disability
Health Risk
RS201979258
Conflicting classifications of pathogenicity
Phytanic acid storage disease, Inborn genetic diseases, Retinal dystrophy
Health Risk
RS34571629
Conflicting classifications of pathogenicity
Phytanic acid storage disease, PHYH-related disorder, Retinal dystrophy
Health Risk
RS368542152
Conflicting classifications of pathogenicity
Phytanic acid storage disease, PHYH-related disorder, Phytanic acid storage disease
Health Risk
All Variants (83)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS999857292 | Health Risk | Likely pathogenic | — |
| RS104894179 | Health Risk | Pathogenic | REFSUM DISEASE, ADULT, 1 |
| RS1057520786 | Health Risk | Pathogenic | — |
| RS1267819026 | Health Risk | Pathogenic | Phytanic acid storage disease, Phytanic acid storage disease |
| RS1384315216 | Health Risk | Pathogenic | — |
| RS1410727499 | Health Risk | Pathogenic | — |
| RS142720126 | Health Risk | Pathogenic | — |
| RS1435262914 | Health Risk | Pathogenic | Phytanic acid storage disease, Phytanic acid storage disease |
| RS1454438150 | Health Risk | Pathogenic | — |
| RS1554785113 | Health Risk | Pathogenic | — |
| RS1835477286 | Health Risk | Pathogenic | — |
| RS201578674 | Health Risk | Pathogenic | REFSUM DISEASE, ADULT, 1 |
| RS2538634781 | Health Risk | Pathogenic | — |
| RS2538635051 | Health Risk | Pathogenic | — |
| RS2538635081 | Health Risk | Pathogenic | — |
| RS2538643559 | Health Risk | Pathogenic | Phytanic acid storage disease, Phytanic acid storage disease |
| RS2538650601 | Health Risk | Pathogenic | — |
| RS2538650783 | Health Risk | Pathogenic | Phytanic acid storage disease, Phytanic acid storage disease |
| RS2538670275 | Health Risk | Pathogenic | — |
| RS28939672 | Health Risk | Pathogenic | REFSUM DISEASE, ADULT, 1 |
| RS730882058 | Health Risk | Pathogenic | REFSUM DISEASE, ADULT, 1 |
| RS750212973 | Health Risk | Pathogenic | — |
| RS767403321 | Health Risk | Pathogenic | Phytanic acid storage disease, Retinal dystrophy, Phytanic acid storage disease |
| RS780657110 | Health Risk | Pathogenic | — |
| RS938466163 | Health Risk | Pathogenic | — |
| RS104894174 | Health Risk | Pathogenic/Likely pathogenic | REFSUM DISEASE, ADULT, 1 |
| RS104894178 | Health Risk | Pathogenic/Likely pathogenic | REFSUM DISEASE, ADULT, 1 |
| RS1057272016 | Health Risk | Pathogenic/Likely pathogenic | Refsum syndrome, Phytanic acid storage disease, Refsum syndrome |
| RS1211539675 | Health Risk | Pathogenic/Likely pathogenic | Phytanic acid storage disease, Phytanic acid storage disease |
| RS144169488 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Phytanic acid storage disease, Retinal dystrophy |
| RS1564426201 | Health Risk | Pathogenic/Likely pathogenic | Phytanic acid storage disease, Phytanic acid storage disease |
| RS1835606884 | Health Risk | Pathogenic/Likely pathogenic | Phytanic acid storage disease, Phytanic acid storage disease |
| RS2131634446 | Health Risk | Pathogenic/Likely pathogenic | Phytanic acid storage disease, Phytanic acid storage disease |