MTRF1L

Chr 6

mitochondrial translation release factor 1 like

Also known as: HMRF1L, MRF1L, mtRF1a

The protein encoded by this gene plays a role in mitochondrial translation termination, and is thought to be a release factor that is involved in the dissociation of the complete protein from the final tRNA, the ribosome, and the cognate mRNA. This protein acts upon UAA and UAG stop codons, but has no in vitro activity against UGA, which encodes tryptophan in human mitochondrion, or, the mitochondrial non-cognate stop codons, AGA and AGG. This protein shares sequence similarity to bacterial release factors. Pseudogenes of this gene are found on chromosomes 4, 8, and 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
P/LP submissions
P/LP missense
1.48
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?
1.48LOEUF
pLI 0.000
Z-score 0.14
OE 0.96 (0.641.48)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.54Z-score
OE missense 1.11 (0.991.24)
212 obs / 191.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.96 (0.641.48)
00.351.4
Missense OE?1.11 (0.991.24)
00.61.4
Synonymous OE?1.01
01.21.6
LoF obs/exp: 15 / 15.6Missense obs/exp: 212 / 191.0Syn Z: -0.10

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

MTRF1L · 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.

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