LYRM4

Chr 6AR

LYR motif containing 4

Also known as: C6orf149, CGI-203, COXPD19, ISD11

NCBI Gene: 57128ENSG00000214113UniProt: Q9HD34OMIM: 613311

The protein encoded by this gene is found in both mitochondria and the nucleus, where it binds cysteine desulfurase and helps free inorganic sulfur for Fe/S clusters. Disruption of this gene negatively impacts mitochondrial and cytosolic iron homeostasis. [provided by RefSeq, Sep 2016]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?Combined oxidative phosphorylation deficiency 19MIM #615595
AR
0
Active trials
8
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.54
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.54LOEUF
pLI 0.200
Z-score 0.98
OE 0.36 (0.13–1.54)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.36Z-score
OE missense 0.86 (0.67–1.10)
43 obs / 50.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.36 (0.13–1.54)
0≤0.351.4
Missense OE?0.86 (0.67–1.10)
0≤0.61.4
Synonymous OE?0.78
0≤1.21.6
LoF obs/exp: 1 / 2.8Missense obs/exp: 43 / 50.2Syn Z: 0.74

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

LYRM4 · 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