CYP4A22
Cytochrome P450 Family 4 Subfamily A Member 22
Gene Information Card
| Symbol | CYP4A22 |
|---|---|
| Full Name | Cytochrome P450 Family 4 Subfamily A Member 22 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p33 |
| NCBI Gene ID | 284541 ncbi.nlm.nih.gov/gene/284541 |
| Ensembl ID | ENSG00000162365 |
| UniProt ID | Q5TCH4 |
| OMIM ID | 614252 |
| HGNC ID | 20525 |
| Aliases | CYP4A22v1, CYP4A22v2, CYP4A22v3 |
Description
CYP4A22 encodes a member of the cytochrome P450 superfamily of enzymes, specifically the CYP4A subfamily. These enzymes are involved in the omega-hydroxylation of fatty acids, particularly medium- and long-chain fatty acids, and play a role in lipid metabolism and homeostasis. The gene is located on chromosome 1p33 and is expressed in the liver and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertension | Altered fatty acid metabolism may affect blood pressure regulation | Limited; association studies suggest potential link but not confirmed |
| Chronic Kidney Disease | Dysregulation of fatty acid omega-hydroxylation may contribute to renal pathology | Inferred from expression in kidney and functional similarity to CYP4A11 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Low |
| Small Intestine | 3.1 | Low |
| Adrenal Gland | 2.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HEK293 | 1.8 | Embryonic kidney cell line |
| Caco-2 | 0.5 | Colorectal adenocarcinoma cell line |
Data source:Human Protein Atlas(proteinatlas.org)
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | missense | 0.01% (gnomAD) | Potential loss of function; not well characterized |
| c.100C>T | missense | 0.005% (gnomAD) | Unknown effect; rare variant |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function variants reported in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function variants reported.
Dominant Negative (DN)
No dominant-negative variants reported.
View complete mutation data:
Gene Ontology (GO)
| • omega-hydroxylase activity | • arachidonic acid omega-hydroxylase activity |
| • heme binding | • iron ion binding |
| • oxidoreductase activity | • acting on paired donors |
| • with incorporation or reduction of molecular oxygen |
Pathways
• Fatty acid metabolism
• Omega-hydroxylation of fatty acids
Protein Summary
CYP4A22 is a microsomal cytochrome P450 enzyme that catalyzes the omega-hydroxylation of medium- and long-chain fatty acids, including arachidonic acid. It is primarily expressed in the liver and kidney, where it contributes to lipid metabolism and the regulation of blood pressure. The protein shares high sequence similarity with CYP4A11, but its specific physiological roles and clinical significance remain under investigation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CYP4A22 Knockout HEK293 Cell Line | EDJ-KQ13074 | Human | 284541 | Details Get a Quote |
| CYP4A22 Knockout HeLa Cell Line | EDJ-KQ59479 | Human | 284541 | Details Get a Quote |
| CYP4A22 Knockout A-549 Cell Line | EDJ-KQ67945 | Human | 284541 | Details Get a Quote |
| CYP4A22 Knockout HCT 116 Cell Line | EDJ-KQ76325 | Human | 284541 | Details Get a Quote |
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