Coiled Coil Helix Coiled Coil Helix Domain Containing Protein 7 (CHCHD7)

By characterizing chromosome 8q12 translocations associated with pleomorphic salivary gland adenoma , Asp et al. (2006) identified CHCHD7 as a new fusion partner in an intrachromosomal rearrangement with PLAG1 . Using RT-PCR of the sequence fused to PLAG1, followed by database analysis, Asp et al. (2006) cloned CHCHD7, which contains a central CHCH domain. Northern blot analysis of normal human adult tissues detected a 2-kb transcript with highest expression in heart, skeletal muscle, and pancreas, and lower expression in brain, placenta, lung, liver, and kidney. Northern blot analysis of human fetal tissues detected low expression in brain, lung, liver and kidney. RT-PCR detected CHCHD7 mRNA expression in normal salivary gland tissue and an alternatively spliced transcript lacking exon 2.