PIPOX Gene (Pipecolic Acid and Sarcosine Oxidase): Function, Disease Associations, and Expression
Comprehensive biomedical resource for PIPOX (pipecolic acid and sarcosine oxidase), including genomic data, tissue expression, mutations, and clinical relevance.
Gene Information Card
| Symbol | PIPOX |
|---|---|
| Full Name | Pipecolic acid and sarcosine oxidase |
| Gene Type | protein-coding |
| Chromosomal Location | 17q11.2 |
| NCBI Gene ID | 51268 ncbi.nlm.nih.gov/gene/51268 |
| Ensembl ID | ENSG00000179869 |
| UniProt ID | Q9P0Z9 |
| OMIM ID | 605942 |
| HGNC ID | 14579 |
| Aliases | L-pipecolate oxidase, L-pipecolic acid oxidase, sarcosine oxidase, SCOT |
Description
PIPOX encodes a peroxisomal enzyme that catalyzes the oxidative demethylation of sarcosine (N-methylglycine) and the oxidation of L-pipecolic acid, a lysine degradation intermediate. The enzyme is a flavoprotein that uses FAD as a cofactor and produces hydrogen peroxide. PIPOX is involved in metabolic pathways and has been implicated in hyperpipecolic acidemia and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hyperpipecolic acidemia | Loss-of-function mutations in PIPOX lead to accumulation of pipecolic acid in plasma and tissues, causing neurological symptoms. | OMIM #605942; PMID: 10970799 |
| Cancer (various) | PIPOX expression is altered in several cancers; in some, it acts as a tumor suppressor by regulating sarcosine metabolism, while in others it may promote tumor growth. | COSMIC; PMID: 26018084 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | High | High |
| Liver | High | High |
| Brain | Low | Low |
| Testis | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | High | Liver cancer cell line |
| A549 | Low | Lung carcinoma |
| MCF7 | Low | Breast cancer |
| HEK293 | Medium | Embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.584C>T (p.Pro195Leu) | Missense | Rare | Reduced enzyme activity |
| c.1003C>T (p.Arg335Ter) | Nonsense | Rare | Loss of function |
| c.1246G>A (p.Gly416Arg) | Missense | Rare | Likely damaging |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce or abolish PIPOX enzymatic activity, leading to metabolic disorders like hyperpipecolic acidemia.
Gain of Function (GOF)
Not well documented; no clear gain-of-function mutations reported.
Dominant Negative (DN)
Not reported for PIPOX.
View complete mutation data：
Gene Ontology (GO)
| • sarcosine oxidase activity | • pipecolate oxidase activity |
| • FAD binding | • peroxisome |
| • oxidation-reduction process |
Pathways
• Lysine degradation
• Glycine
• serine and threonine metabolism
Protein Summary
PIPOX is a 43 kDa peroxisomal flavoprotein that belongs to the amine oxidase family. It catalyzes the oxidative demethylation of sarcosine to glycine and formaldehyde, and the oxidation of L-pipecolic acid to 2-aminoadipate-6-semialdehyde. The enzyme is highly expressed in kidney and liver, and its deficiency leads to hyperpipecolic acidemia. Recent studies suggest a role in cancer metabolism, particularly in prostate cancer where sarcosine levels are modulated.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PIPOX Knockout HEK293 Cell Line | EDJ-KQ11004 | Human | 51268 | Details Get a Quote |
| PIPOX Knockout HeLa Cell Line | EDJ-KQ56265 | Human | 51268 | Details Get a Quote |
| PIPOX Knockout A-549 Cell Line | EDJ-KQ64754 | Human | 51268 | Details Get a Quote |
| PIPOX Knockout HCT 116 Cell Line | EDJ-KQ73200 | Human | 51268 | Details Get a Quote |
| PIPOX Knockout Hep-G2 Cell Line | EDJ-KQ78087 | Human | 51268 | Details Get a Quote |
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