MRPL37

Chr 1

mitochondrial ribosomal protein L37

Also known as: L2mt, L37mt, MRP-L2, MRP-L37, MRPL2, RPML2, mL37

This protein is a component of the large 39S subunit of mitochondrial ribosomes, which synthesize proteins essential for mitochondrial function. Mutations cause autosomal recessive mitochondrial disorders with variable presentations that can include developmental delay, seizures, and multi-organ dysfunction. The gene shows minimal constraint against loss-of-function variants (very low pLI score), suggesting that complete loss of function may be tolerated in the heterozygous state.

OMIMResearchSummary from RefSeq
LOEUF 1.12
Clinical SummaryMRPL37
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

Tolerant — LoF & missense variants common in population
LoF Constraint
1.12LOEUF
pLI 0.000
Z-score 1.16
OE 0.72 (0.481.12)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.50Z-score
OE missense 0.91 (0.821.02)
229 obs / 251.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.72 (0.481.12)
00.351.4
Missense OE0.91 (0.821.02)
00.61.4
Synonymous OE0.92
01.21.6
LoF obs/exp: 15 / 20.7Missense obs/exp: 229 / 251.4Syn Z: 0.64

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MRPL37 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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