PHYHIPL
Phytanoyl-CoA 2-Hydroxylase Interacting Protein Like
Gene Information Card
| Symbol | PHYHIPL |
|---|---|
| Full Name | Phytanoyl-CoA 2-Hydroxylase Interacting Protein Like |
| Gene Type | protein-coding |
| Chromosomal Location | 10q21.3 |
| NCBI Gene ID | 84457 ncbi.nlm.nih.gov/gene/84457 |
| Ensembl ID | ENSG00000165801 |
| UniProt ID | Q96FC7 |
| OMIM ID | 616614 |
| HGNC ID | 25973 |
| Aliases | FLJ22662, dJ1181N3.1 |
Description
PHYHIPL encodes a protein that interacts with phytanoyl-CoA 2-hydroxylase (PHYH), an enzyme involved in the alpha-oxidation of branched-chain fatty acids. The gene is located on chromosome 10q21.3 and is expressed in various tissues. Its exact biological function remains under investigation, but it may modulate PHYH activity or participate in peroxisomal metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Refsum disease (potential modifier) | PHYHIPL interacts with PHYH; variants may alter PHYH activity and phytanic acid metabolism | Limited; inferred from protein interaction (UniProt) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Heart | 3.8 | Low |
| Liver | 2.1 | Low |
| Kidney | 4.0 | Low |
| Testis | 6.5 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.5 | Low expression |
| HeLa | 3.2 | Low expression |
| K562 | 2.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Potential loss of start codon; effect unknown |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported.
Gain of Function (GOF)
No confirmed gain-of-function variants reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) |
Pathways
• Alpha-oxidation of phytanic acid (inferred via PHYH interaction)
Protein Summary
PHYHIPL is a 366-amino acid protein that interacts with phytanoyl-CoA 2-hydroxylase. It is predicted to localize to the cytoplasm and may play a role in peroxisomal fatty acid metabolism. Structural and functional studies are limited.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PHYHIPL Knockout HEK293 Cell Line | EDJ-KQ10095 | Human | 84457 | Details Get a Quote |
| PHYHIPL Knockout HeLa Cell Line | EDJ-KQ57597 | Human | 84457 | Details Get a Quote |
| PHYHIPL Knockout A-549 Cell Line | EDJ-KQ66094 | Human | 84457 | Details Get a Quote |
| PHYHIPL Knockout HCT 116 Cell Line | EDJ-KQ74516 | Human | 84457 | Details Get a Quote |
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