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Many hepatocellular carcinomas, few prostate and gastric cancers along with occasional renal and pancreatic cancers displayed moderate cytoplasmic positivity. Remaining tissues were in general negative.
Melanomas, prostate and thyroid cancers generally displayed moderate to strong cytoplasmic immunoreactivity. Moderate staining was also observed in several cases of lymphomas, colorectal and renal cancers. Remaining cancer tissues were weakly stained or negative.
The protein encoded by this gene localizes to the mitochondrion and is part of the iron-sulfur cluster assembly pathway. The encoded protein functions late in the biosynthesis of mitochondrial 4Fe-4S proteins. Defects in this gene have been associated with autosomal recessive spastic paraplegia-74 and with multiple mitochondrial dysfunctions syndrome-3. Two transcript variants encoding different isoforms have been found for this gene. The smaller isoform is not likely to be localized to the mitochondrion since it lacks the amino-terminal transit peptide. [provided by RefSeq, Jul 2015]