OnlineIMD
UQCRFS1 deficiency
Type
Disease
External link(s)
IEMbase
Gene
UQCRFS1
/ Ubiquinol-Cytochrome C ReductaseFragmentation Soluble
19q12
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Cytochrome b-c1 complex subunit 6
Multimer
Respiratory chain complex 3
Disease group(s)
7.3 Disorders of nuclear encoded complex III subunits and assembly factors