PIPOX

Chr 17

pipecolic acid and sarcosine oxidase

Also known as: LPIPOX

NCBI Gene: 51268ENSG00000179761UniProt: Q9P0Z9

Enables L-pipecolate oxidase activity and sarcosine oxidase activity. Involved in L-lysine catabolic process to acetyl-CoA via L-pipecolate. Located in peroxisome. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
0
Pathogenic / LP
0
ClinVar variants
9
Pubs (1 yr)
0.2
Missense Z
1.26
LOEUF
Clinical Summary— PIPOX
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.26LOEUF
pLI 0.000
Z-score 0.61
OE 0.86 (0.60–1.26)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.24Z-score
OE missense 0.96 (0.86–1.07)
224 obs / 234.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.86 (0.60–1.26)
0≤0.351.4
Missense OE0.96 (0.86–1.07)
0≤0.61.4
Synonymous OE0.90
0≤1.21.6
LoF obs/exp: 19 / 22.1Missense obs/exp: 224 / 234.2Syn Z: 0.76
DN
DN
0.6648th %ile
GOF
0.4875th %ile
LOF
0.4039th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

PIPOX · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 4 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients