BCS1L抗体(SS-M13): sc-134280

BCS1L Antibody (SS-M13) is an IgG₁ κ mouse monoclonal BCS1L antibody (also designated BCS1L antibody) that detects the BCS1L protein of human origin by WB, IP and ELISA. BCS1L Antibody (SS-M13) is available as the non-conjugated anti-BCS1L antibody. Hepatic involvement is a common feature in childhood mitochondrial hepatopathies, particularly in the neonatal period. Respiratory chain disorders may present as neonatal acute liver failure, hepatic steatohepatitis, cholestasis, or cirrhosis with chronic liver failure of insidious onset. GRACILE (growth retardation, aminoaciduria, cholestasis, iron overload, lactacidosis, and early death) syndrome is a recessively inherited lethal disease characterized by fetal growth retardation, lactic acidosis, aminoaciduria, cholestasis, and abnormalities in iron metabolism. GRACILE syndrome is the result of mutations in BCS1L, a mitochondrial inner-membrane protein that acts as a chaperone necessary for the assembly of mitochondrial respiratory chain complex III. Mutations in BCS1L can also result in the Björnstad syndrome, an autosomal recessive disorder associated with sensorineural hearing loss and pili torti. All mutant BCS1L proteins disrupt the assembly of complex III, reduce the activity of the mitochondrial electron-transport chain and increase the production of reactive oxygen species. Clinical expression of the mutations is correlated with the production of reactive oxygen species.

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References:

1. GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.  |  Visapää, I., et al. 2002. Am J Hum Genet. 71: 863-76. PMID: 12215968
2. The GRACILE syndrome, a neonatal lethal metabolic disorder with iron overload.  |  Fellman, V. 2002. Blood Cells Mol Dis. 29: 444-50. PMID: 12547234
3. BCS1L is expressed in critical regions for neural development during ontogenesis in mice.  |  Kotarsky, H., et al. 2007. Gene Expr Patterns. 7: 266-73. PMID: 17049929
4. Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome.  |  Hinson, JT., et al. 2007. N Engl J Med. 356: 809-19. PMID: 17314340
5. Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy.  |  Fernandez-Vizarra, E., et al. 2007. Hum Mol Genet. 16: 1241-52. PMID: 17403714
6. Mitochondrial hepatopathies: advances in genetics and pathogenesis.  |  Lee, WS. and Sokol, RJ. 2007. Hepatology. 45: 1555-65. PMID: 17538929
7. Liver disease in mitochondrial disorders.  |  Lee, WS. and Sokol, RJ. 2007. Semin Liver Dis. 27: 259-73. PMID: 17682973
8. Screening of BCS1L mutations in severe neonatal disorders suspicious for mitochondrial cause.  |  Fellman, V., et al. 2008. J Hum Genet. 53: 554-558. PMID: 18386115
9. Infantile mitochondrial encephalomyopathy with unusual phenotype caused by a novel BCS1L mutation in an isolated complex III-deficient patient.  |  Blázquez, A., et al. 2009. Neuromuscul Disord. 19: 143-6. PMID: 19162478