MRPL44

Chr 2q36.1

mitochondrial ribosomal protein L44

Aliases:: FLJ12701, FLJ13990, mL44
MANE:: ENST00000258383.4

OMIM: 611849 ↗NCBI: 65080 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

MRPL44 · Q9H9J2

v62025-08-01

Predicted Aligned Error matrix for MRPL44 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

88.0/ 100

Confident

332 residues

Confidence breakdown

Very high(≥ 90)80%
Confident(70–90)5%
Low(50–70)9%
Very low(< 50)6%

Open interactive 3D viewer

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

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal
Paediatric or syndromic cardiomyopathy
BIALLELIC, autosomal or pseudoautosomal
Possible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
0.65
mitochondrial disease
0.37
inborn mitochondrial metabolism disorder
0.37
hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
0.34
neurodegenerative disease
0.24
hereditary disease
0.19
alcohol drinking
0.04
stroke disorder
0.04
Abnormality of the skeletal system
0.03
venous thromboembolism
0.03

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

Protein function (UniProt)

Large ribosomal subunit protein mL44

Component of the 39S subunit of mitochondrial ribosome (PubMed:23315540). May have a function in the assembly/stability of nascent mitochondrial polypeptides exiting the ribosome (PubMed:23315540)