KEGG   VARIANT: 7386v1
Entry
7386v1                      Variant                                
Name
UQCRFS1 mutation
Type
Loss of function
Gene
UQCRFS1  ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 [KO:K00411]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 191327
Network
nt06529  Thermogenesis
nt06535  Efferocytosis
Disease
H02086  Mitochondrial complex III deficiency
Reference
PMID:31883641
  Authors
Gusic M, Schottmann G, Feichtinger RG, Du C, Scholz C, Wagner M, Mayr JA, Lee CY, Yepez VA, Lorenz N, Morales-Gonzalez S, Panneman DM, Rotig A, Rodenburg RJT, Wortmann SB, Prokisch H, Schuelke M
  Title
Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.
  Journal
Am J Hum Genet 106:102-111 (2020)
DOI:10.1016/j.ajhg.2019.12.005
LinkDB

DBGET integrated database retrieval system