TUFM

This gene encodes a protein which participates in protein translation in mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency resulting in lactic acidosis and fatal encephalopathy. A pseudogene has been identified on chromosome 17. [provided by RefSeq, Jul 2008]

Description

Tu translation elongation factor, mitochondrial

Protein family

Disease related genes, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Plasma proteins, Predicted intracellular proteins, Protein evidence (Peptideatlas)

Chromosome

16:p11.2 (28842411 - 28846348)

Ensembl ID

ENSG00000178952  (ver. 99.38)

Orthologs

Mouse Tufm: ENSMUSG00000073838

UniProt

P49411

neXtProt

NX_P49411

Human splice variants
Mouse splice variants