SQOR
Function
Catalyzes the oxidation of hydrogen sulfide with the help of a quinone, such as ubiquinone-10, giving rise to thiosulfate and ultimately to sulfane (molecular sulfur) atoms. Requires an additional electron acceptor; can use sulfite, sulfide or cyanide (in vitro) (PubMed:22852582). It is believed the in vivo electron acceptor is glutathione (PubMed:25225291, PubMed:29715001).
Involvement in disease
Sulfide:quinone oxidoreductase deficiency
SQORD
An autosomal recessive disorder of hydrogen sulfide metabolism characterized by a variable phenotype. Some patients present with encephalopathy, clinical manifestations of Leigh syndrome, and may have a fatal disease course. Others are asymptomatic. Additional features may include lactic acidosis and decreased mitochondrial respiratory chain complex IV activity in tissues.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the SQRD family.
Cellular localization
- Mitochondrion
Alternative names
SQRDL, CGI-44, SQOR, Sulfide dehydrogenase-like, Sulfide quinone oxidoreductase