CDO1

Chr 5

cysteine dioxygenase type 1

Also known as: CDO-I

NCBI Gene: 1036ENSG00000129596UniProt: Q16878OMIM: 603943

Enables cysteine dioxygenase activity; ferrous iron binding activity; and zinc ion binding activity. Involved in L-cysteine catabolic process and taurine biosynthetic process. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating clinical summary…
0
Active trials
72
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.93
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.93LOEUF
pLI 0.010
Z-score 1.74
OE 0.44 (0.23–0.93)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.19Z-score
OE missense 0.95 (0.81–1.12)
104 obs / 109.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.44 (0.23–0.93)
0≤0.351.4
Missense OE?0.95 (0.81–1.12)
0≤0.61.4
Synonymous OE?0.74
0≤1.21.6
LoF obs/exp: 5 / 11.3Missense obs/exp: 104 / 109.6Syn Z: 1.28

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CDO1 · 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 →

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