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MT001461

Record overview

MITO ID	MT001461
Gene ID	91574
Species	Homo sapiens (Human)
Gene Name	chromosome 12 open reading frame 65
Gene Symbol	C12orf65
Synonyms	SPG55; COXPD7;
Alternate names	probable peptide chain release factor C12orf65, mitochondrial;
Chromosome	12
Map Location	12q24.31
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]
Orthologs	View orthologs and multiple alignments for C12orf65

Proteins

probable peptide chain release factor C12orf65, mitochondrial

Refseq ID:	NP_001137377
Protein GI:	219879802
UniProt ID:	Q9H3J6
mRNA ID:	NM_001143905
Length:	166
RefSeq Status:

probable peptide chain release factor C12orf65, mitochondrial
`MSTVGLFHFPTPLTRICPAPWGLRLWEKLTLLSPGIAVTPVQMAGKKDYPALLSLDENELEEQFVKGHGPGGQATNKTSNCVVLKHIPSGIVVKCHQTRS VDQNRKLARKILQEKVDVFYNGENSPVHKEKREAAKKKQERKKRAKETLEKKKLLKELWESSKKVH`

Refseq ID:	NP_001181924
Protein GI:	303304971
UniProt ID:	Q9H3J6
mRNA ID:	NM_001194995
Length:	166
RefSeq Status:

probable peptide chain release factor C12orf65, mitochondrial
Protein sequence is identical to GI:219879802 (mRNA isoform)

Refseq ID:	NP_689482
Protein GI:	22748627
UniProt ID:	Q9H3J6
mRNA ID:	NM_152269
Length:	166
RefSeq Status:

Protein sequence is identical to GI:219879802 (mRNA isoform)