Full name: mitochondrial translation release factor in rescue

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: C12orf65; COXPD7; SPG55; mtRF-R

Summary: This nuclear gene encodes a mitochondrial matrix protein that appears to contribute to peptide chain termination in the mitochondrial translation machinery. Two different 1 bp deletions (resulting in the same premature stop codon)result in decreased mitochondrial translation, decreased levels of oxidative phosphorylation complexes and encepthalomyopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]

Expression: Ubiquitous expression in ovary (RPKM 3.7), testis (RPKM 3.5) and 25 other tissues

Gene size: 25047bp

Exon count: 6