MRPL24

Chr 1

mitochondrial ribosomal protein L24

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

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]

ResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)
mitochondrial disease · ARLimitednot for standalone diagnostic reporting
0
Active trials
5
Pubs (1 yr)
P/LP submissions
P/LP missense
1.35
LOEUF
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.35LOEUF
pLI 0.000
Z-score 0.66
OE 0.80 (0.491.35)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.42Z-score
OE missense 0.90 (0.771.04)
121 obs / 134.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.80 (0.491.35)
00.351.4
Missense OE?0.90 (0.771.04)
00.61.4
Synonymous OE?0.82
01.21.6
LoF obs/exp: 10 / 12.5Missense obs/exp: 121 / 134.9Syn Z: 0.98

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

MRPL24 · 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

No active trials found for this gene.

Search ClinicalTrials.gov →