The MCCD1 gene encodes a deduced 119-amino acid protein containing a putative coiled-coil domain at its C terminus and a predicted mitochondrial localization signal at its N terminus. RT-PCR analysis detected expression of MCCD1 in all human tissues tested, at highest levels in adult and fetal kidney, liver and lung, and fetal brain, and at lower levels in fetal spleen.
The human and pig proteins share 65.9% overall sequence identity but their C-terminal domains are highly conserved, showing 92% identity over 53 residues. No orthologs were identified in any other species, suggesting that the gene arose relatively recently in evolution. Transient expression in mammalian cells of MCCD1 fused at its C terminus to either EGFP or the T7-epitope tag showed that the protein is localized to mitochondria.
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