BCS1L

From Ganfyd

BCS1L is a protein coded by a gene on 2q34-36 mutations of which cause:

• Bjornstad syndrome
  • pili torti
  • sensorineural deafness
• Complex III (ubiquinol cytochrome c reductase) deficiency see Mitochondrial diseases
  • Tubulopathy
  • Encephalopathy
  • Hepatic failure
• GRACILE syndrome see Mitochondrial diseases
  • Severe intrauterine growth retardation
  • Fulminant lactic acidosis
  • Fanconi-type amino aciduria
  • Liver haemosiderosis.

There is a strong correlation with these mutations and production of reactive oxygen and the Bjornstad syndrome is presently regarded as the mildest form of disease suggesting that ear hair and ordinary hair follicle tissues are particularly sensitive to free oxygen which may explain certain drug side-effects such as with aminoglycosides.^[1]

References