Gene: TSFM

Alternate names for this Gene: EFTS|EFTSMT

Gene Summary: This gene encodes a mitochondrial translation elongation factor. The encoded protein is an enzyme that catalyzes the exchange of guanine nucleotides on the translation elongation factor Tu during the elongation step of mitchondrial protein translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-3 syndrome. Alternate splicing results in multiple transcript variants.

Gene is located in Chromosome: 12

Location in Chromosome : 12q14.1

Description of this Gene: Ts translation elongation factor, mitochondrial

Type of Gene: protein-coding

rs121909485 in TSFM gene and Combined Oxidative Phosphorylation Deficiency 3 PMID 17033963 2006 Distinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTs.

PMID 27677415 2016 Molecular-genetic characterization and rescue of a TSFM mutation causing childhood-onset ataxia and nonobstructive cardiomyopathy.

PMID 22499341 2012 Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes.

rs201202118 in TSFM gene and Multiple Sclerosis PMID 24076602 2013 Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.