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.
Belongs to the bacterial ribosomal protein bS16 family.
RPMS16, CGI-132, MRPS16, Small ribosomal subunit protein bS16m, MRP-S16, S16mt
Proteins
15345Da
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