MRPL49

Chr 11q13.1

mitochondrial ribosomal protein L49

Aliases:: NOF, NOF1, L49mt, mL49
MANE:: ENST00000279242.7

OMIM: 606866 ↗NCBI: 740 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Intellectual disability
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders
BIALLELIC, autosomal or pseudoautosomal
Monogenic hearing loss
BIALLELIC, autosomal or pseudoautosomal
Severe microcephaly
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

combined oxidative phosphorylation deficiency 60
0.66
combined oxidative phosphorylation deficiency
0.54
neurodegenerative disease
0.43
mitochondrial disease
0.43
Perrault syndrome 1
0.37
combined oxidative phosphorylation defect type 2
0.34
sensorineural hearing loss disorder
0.02
hyperuricemia
0.02
leukodystrophy
0.02
ovarian dysfunction
0.01

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