C12orf65

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]

Description

Chromosome 12 open reading frame 65

Tissue specificity

Tissue enhanced (lymphoid tissue)

Subcell location

Nucleoplasm, Mitochondria, Cytosol

Predicted location

Intracellular

Protein family

Disease related genes
Human disease related genes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

12 (123233385 - 123258079)

Ensembl ID

ENSG00000130921  (ver. 103.38)

Orthologs

Mouse 2810006K23Rik: ENSMUSG00000047635

UniProt

Q9H3J6

neXtProt

NX_Q9H3J6

Human splice variants
Mouse splice variants

Protein structure