PHYHIP (Phytanoyl-CoA 2-Hydroxylase Interacting Protein)
A gene encoding a protein that interacts with phytanoyl-CoA 2-hydroxylase, involved in peroxisomal fatty acid oxidation and linked to neurodevelopmental disorders.
Gene Information Card
| Symbol | PHYHIP |
|---|---|
| Full Name | Phytanoyl-CoA 2-Hydroxylase Interacting Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 8p21.3 |
| NCBI Gene ID | 9796 ncbi.nlm.nih.gov/gene/9796 |
| Ensembl ID | ENSG00000104419 |
| UniProt ID | Q9H0W9 |
| OMIM ID | 617706 |
| HGNC ID | 17756 |
| Aliases | D6S2654E, PAHX-AP1, KIAA0273 |
Description
PHYHIP encodes a protein that interacts with phytanoyl-CoA 2-hydroxylase (PHYH), a peroxisomal enzyme involved in the alpha-oxidation of branched-chain fatty acids. The PHYHIP protein may modulate PHYH activity or localization. The gene is expressed in multiple tissues, with highest levels in the brain, and has been implicated in neurodevelopmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with hypotonia and brain abnormalities | Disruption of PHYHIP may impair peroxisomal function, affecting neuronal development | ClinVar (VCV000988244) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 8.3 | Low |
| Heart | 6.1 | Low |
| Liver | 4.2 | Not detected |
| Kidney | 3.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y | 15.2 | Neuroblastoma cell line |
| HEK293 | 9.8 | Embryonic kidney cells |
| HeLa | 7.1 | Cervical carcinoma cells |
| HepG2 | 3.5 | Hepatocellular carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.202C>T (p.Arg68Trp) | Missense | Rare | Unknown effect, reported in neurodevelopmental disorder |
Mutation functional classification
Loss of Function (LOF)
Likely for start-loss variant (p.Met1?)
Gain of Function (GOF)
No evidence
Dominant Negative (DN)
No evidence
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • cytoplasm (GO:0005737) |
| • peroxisome (GO:0005777) | • nucleus (GO:0005634) |
Pathways
• Peroxisomal lipid metabolism (Reactome: R-HSA-196854)
Protein Summary
PHYHIP is a 366-amino acid protein that interacts with phytanoyl-CoA 2-hydroxylase. It is localized to the cytoplasm and peroxisome, and may play a role in peroxisomal fatty acid oxidation. The protein contains a conserved domain of unknown function (DUF).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PHYHIP Knockout HEK293 Cell Line | EDJ-KQ6754 | Human | 9796 | Details Get a Quote |
| PHYHIPL Knockout HEK293 Cell Line | EDJ-KQ10095 | Human | 84457 | Details Get a Quote |
| PHYHIP Knockout HeLa Cell Line | EDJ-KQ31179 | Human | 9796 | Details Get a Quote |
| PHYHIPL Knockout HeLa Cell Line | EDJ-KQ57597 | Human | 84457 | Details Get a Quote |
| PHYHIP Knockout A-549 Cell Line | EDJ-KQ63734 | Human | 9796 | Details Get a Quote |
| PHYHIPL Knockout A-549 Cell Line | EDJ-KQ66094 | Human | 84457 | Details Get a Quote |
| PHYHIP Knockout HCT 116 Cell Line | EDJ-KQ72193 | Human | 9796 | Details Get a Quote |
| PHYHIPL Knockout HCT 116 Cell Line | EDJ-KQ74516 | Human | 84457 | Details Get a Quote |
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