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Variable cytoplasmic positivity within cancers was observed. Most frequent and strong positivity was found in liver tumors and urothelial carcinomas. Skin, lung, testis, cervical, endometrial cancers and lymphomas were mainly negative.
This gene encodes a mitochondrial protein that is enriched at cristae junctions in the intermembrane space. It may play a role in cristae morphology maintenance or oxidative phosphorylation. Mutations in this gene cause frontotemporal dementia and/or amyotrophic lateral sclerosis-2. Alternative splicing of this gene results in multiple transcript variants. Related pseudogenes have been identified on chromosomes 7 and 19. [provided by RefSeq, Aug 2014]