PHYH phytanoyl-CoA 2-hydroxylase
Gene ID: 5264, updated on 5-Mar-2024Gene type: protein coding
Also known as: RD; LN1; PAHX; LNAP1; PHYH1
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- Go to complete Gene record for PHYH
- Go to Variation Viewer for PHYH variants
Summary
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
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Phytanic acid storage disease | See labs |
Genomic context
- Location:
- 10p13
- Sequence:
- Chromosome: 10; NC_000010.11 (13277799..13300064, complement)
- Total number of exons:
- 10
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PHYH variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PHYH database
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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