MRPL40

Gene

mitochondrial ribosomal protein L40

HGNCHGNC:14491 EnsemblENSG00000185608 NCBI Gene64976

Locus: gene with protein productLocation: 22q11.21

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asNLVCF · MRP-L22 · mL40

View full nomenclature history (4)

Previous symbolsNLVCF

Alias symbolsMRP-L22, mL40

Previous namesnuclear localization signal deleted in velocardiofacial syndrome

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Neurodegenerative Diseases

Pulmonary Disease, Chronic Obstructive

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

Mitochondrial ribosomal proteinsLarge subunit mitochondrial ribosomal proteins

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-07-07.

Open TargetsGene–disease associations from the Open Targets Platform.