A point mutation in the BCS1L gene found on chromosome 2 has been determined to be the cause of<unk> . The BCS1L gene is responsible for the production of the BCS1L protein found in the mitochondria, which is connected to the process of oxidative phosphorylation. In particular, the protein is a key contributor in the formation of Complex III that is part of the electron transport chain. Complex III is still able to be produced, but it is reduced significantly compared to a person without<unk> . The deficiency of Complex III is more pronounced in the liver and kidneys, which leads to the symptoms seen in those with<unk> .
GRACILE syndrome
Rotor syndrome
ZTTK syndrome
MEDNIK syndrome
LIG4 syndrome
Treacher Collins syndrome
RAPADILINO syndrome
ATR-16 syndrome