The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
1/200 - 1/500. Perform heat mediated antigen retrieval with citrate buffer pH 6 before commencing with IHC staining protocol.
Defects in BOLA3 are the cause of multiple mitochondrial dysfunctions syndrome type 2 (MMDS2) [MIM:614299]. A severe disorder of systemic energy metabolism, resulting in weakness, respiratory failure, lack of neurologic development, lactic acidosis, hyperglycinemia and early death. Some patients show failure to thrive, pulmonary hypertension, hypotonia and irritability. Biochemical features include severe combined deficiency of the 2-oxoacid dehydrogenases, defective lipoic acid synthesis and reduction in activity of mitochondrial respiratory chain complexes.
Belongs to the bolA/yrbA family.
Secreted. Could be secreted via a non-classical export pathway.