MRPL24

Chr 1

mitochondrial ribosomal protein L24

Also known as: L24mt, MRP-L18, MRP-L24, uL24m

NCBI Gene: 79590 ENSG00000143314 UniProt: Q96A35 OMIM: 611836

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein which is more than twice the size of its E.coli counterpart (EcoL24). Sequence analysis identified two transcript variants that encode the same protein. [provided by RefSeq, Jul 2008]

OMIM Research

OMIM ResearchGenerating clinical summary…

LOEUF 1.35

Clinical Summary— MRPL24

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Gene-Disease Validity (ClinGen)

mitochondrial disease · ARLimited

Limited evidence — not for standalone diagnostic reporting

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

34 VUS of 47 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.35LOEUF

pLI 0.000

Z-score 0.66

OE 0.80 (0.49–1.35)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.42Z-score

OE missense 0.90 (0.77–1.04)

121 obs / 134.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.80 (0.49–1.35)

0≤0.351.4

Missense OE?0.90 (0.77–1.04)

0≤0.61.4

Synonymous OE?0.82

0≤1.21.6

LoF obs/exp: 10 / 12.5Missense obs/exp: 121 / 134.9Syn Z: 0.98

ClinVar Variant Classifications

47 submitted variants in ClinVar

ClinVar

Classification Summary

VUS34

Likely Benign2

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	0	0	0
Likely Pathogenic	0	0	0	0
VUS	33	1	0	34
Likely Benign	1	0	1	2
Benign	0	0	0	0
Total	34	1	1	36

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

15 pathogenic / likely-pathogenic (of 20) ClinVar copy-number / structural variants overlap MRPL24 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →