MRPS6

Chr 21

mitochondrial ribosomal protein S6

Also known as: C21orf101, MRP-S6, RPMS6, S6mt, bS6m

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 28S subunit protein that belongs to the ribosomal protein S6P family. Pseudogenes corresponding to this gene are found on chromosomes 1p and 12q. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
P/LP submissions
P/LP missense
1.69
LOEUF
DN
Mechanism· predicted
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?
1.69LOEUF
pLI 0.001
Z-score 0.30
OE 0.87 (0.451.69)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.26Z-score
OE missense 1.09 (0.901.32)
76 obs / 69.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.87 (0.451.69)
00.351.4
Missense OE?1.09 (0.901.32)
00.61.4
Synonymous OE?0.90
01.21.6
LoF obs/exp: 5 / 5.8Missense obs/exp: 76 / 69.8Syn Z: 0.39

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MRPS6 · 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 →