MRPL12

Chr 17q25.3

mitochondrial ribosomal protein L12

Aliases:: MRPL7/L12, MRPL7, bL12m
MANE:: ENST00000333676.8

OMIM: 602375 ↗NCBI: 6182 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

MRPL12 · P52815

v62025-08-01

Predicted Aligned Error matrix for MRPL12 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

66.9/ 100

Low

198 residues

Confidence breakdown

Very high(≥ 90)14%
Confident(70–90)38%
Low(50–70)13%
Very low(< 50)35%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Moderate Evidence (Amber)

Possible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
Unknown
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

combined oxidative phosphorylation deficiency 45
0.40
neurodegenerative disease
0.38
hepatocellular carcinoma
0.09
neoplasm
0.09
acute kidney injury
0.08
nonpapillary renal cell carcinoma
0.07
breast cancer
0.06
breast carcinoma
0.06
posterior cortical atrophy
0.03
cancer
0.02

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Large ribosomal subunit protein bL12m

As a component of the mitochondrial large ribosomal subunit, plays a role in mitochondrial translation (PubMed:23603806). When present in mitochondria as a free protein not associated with the ribosome, associates with mitochondrial RNA polymerase POLRMT to activate transcription (PubMed:22003127). Required for POLRMT stability (PubMed:26586915)