optic atrophy 3 protein (OPA3)

Function

• some role in mitochondrial processes (putative)

Expression

• ubiquitous
• greatest expression in skeletal muscle, kidney

Pathology

• defects in OPA3 result in Costeff optic atrophy syndrome 3-methylglutaconic aciduria type 3, optic atrophy plus syndrome

Laboratory

• OPA3 gene mutation

More general terms

• other protein

Database

• OMIM: https://mirror.omim.org/entry/258501
• OMIM: https://mirror.omim.org/entry/606580
• UniProt: http://www.uniprot.org/uniprot/Q9H6K4.html