OnlineIMD
UQCRC2 deficiency
Type
Disease
External link(s)
IEMbase
Gene
UQCRC2
/ Ubiquinol Cytochrome C Reductase Core Protein 2
16p12.2
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Cytochrome b-c1 complex subunit 2, mitochondrial
Multimer
Respiratory chain complex 3
Disease group(s)
7.3 Disorders of nuclear encoded complex III subunits and assembly factors