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MRPS16

Involvement in disease

Combined oxidative phosphorylation deficiency 2

COXPD2

A mitochondrial disease resulting in fatal neonatal metabolic acidosis with agenesis of the corpus callosum.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the bacterial ribosomal protein bS16 family.

Cellular localization

Alternative names

RPMS16, CGI-132, MRPS16, Small ribosomal subunit protein bS16m, MRP-S16, S16mt

swissprot:Q9Y3D3 entrezGene:51021 omim:609204