OXLD1
Chr 17oxidoreductase like domain containing 1
Also known as: C17orf90
Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]
Clinical Summary— OXLD1
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Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.28) despite low pLI — interpret in context.
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ClinVar Variants
21 Pathogenic / Likely Pathogenic· 28 VUS of 52 total submissions
Some data sources returned errors (1)
ensembl: TimeoutError: The operation was aborted due to timeout
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
1.28LOEUF
pLI 0.266
Z-score 1.27
OE 0.28 (0.10–1.28)
Highly tolerant — LoF variants common in population
Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
-0.30Z-score
OE missense 1.09 (0.93–1.28)
106 obs / 97.6 exp
Tolerant to missense variation
Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.28 (0.10–1.28)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.09 (0.93–1.28)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.97
0≤1.21.6
LoF obs/exp: 1 / 3.6Missense obs/exp: 106 / 97.6Syn Z: 0.15
ClinVar Variant Classifications
52 submitted variants in ClinVar
Classification Summary
Pathogenic18
Likely Pathogenic3
VUS28
Likely Benign3
18
Pathogenic
3
Likely Pathogenic
28
VUS
3
Likely Benign
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 18 | 0 | 18 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 0 | 23 | 5 | 0 | 28 |
Likely Benign | 0 | 2 | 0 | 1 | 3 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 25 | 26 | 1 | 52 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
OXLD1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
OMIM — Genotype-Phenotype
No OMIM entries found.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
The prognostic potential of RNA in stage II colon cancer: Insights from a screened multicenter population-based cohort study.
Korsgaard U et al.·Int J Cancer
2025Cohort
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
No open access results found
Top 5 resultsSearch Europe PMC ↗
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
Mitochondrial protection role of oxidoreductase-like domain containing 1 in myocardial cells under hypoxia
Yan Y et al.·Med Gas Res
2026
Transcriptome analysis creates a new era of precision medicine for managing recurrent hepatocellular carcinoma
Chiang CC et al.·World J Gastroenterol
2023
Identification of the Immune Subtype of Hepatocellular Carcinoma for the Prediction of Disease-Free Survival Time and Prevention of Recurrence by Integrated Analysis of Bulk- and Single-Cell RNA Sequencing Data
Fu J et al.·Front Immunol
2022
Quantitative high-confidence human mitochondrial proteome and its dynamics in cellular context
Morgenstern M et al.·Cell Metab
2021
Transcriptional network modulated by the prognostic signature transcription factors and their long noncoding RNA partners in primary prostate cancer
Jiang M et al.·EBioMedicine
2021
Olaparib increases chemosensitivity by upregulating miR-125a-3p in ovarian cancer cells
Wang Z et al.·Discov Oncol
2025
Heterogeneity of Circulating Tumor Cell Neoplastic Subpopulations Outlined by Single-Cell Transcriptomics
Pauken CM et al.·Cancers (Basel)
2021
Effects of a natural ingredients-based intervention targeting the hallmarks of aging on epigenetic clocks, physical function, and body composition: a single-arm clinical trial
Carreras-Gallo N et al.·Aging (Albany NY)
2025
Top 9 full-text resultsSearch PubTator3 ↗
External Resources
Links to major genomics databases and tools