Gene: TRMU

Alternate names for this Gene: LCAL3|MTO2|MTU1|TRMT|TRMT1

Gene Summary: This nuclear gene encodes a mitochondrial tRNA-modifying enzyme. The encoded protein catalyzes the 2-thiolation of uridine on the wobble positions of tRNA(Lys), tRNA(Glu), and tRNA(Gln), resulting in the formation of 5-taurinomethyl-2-thiouridine moieties. Mutations in this gene may cause transient infantile liver failure. Polymorphisms in this gene may also influence the severity of deafness caused by mitochondrial 12S ribosomal RNA mutations. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 22

Location in Chromosome : 22q13.31

Description of this Gene: tRNA mitochondrial 2-thiouridylase

Type of Gene: protein-coding

rs387907022 in TRMU gene and Dysmorphic features PMID 25665837 2015 Hepatic Copper Accumulation: A Novel Feature in Transient Infantile Liver Failure Due to TRMU Mutations?

PMID 25407320 2015 Reversible infantile mitochondrial diseases.

PMID 25058219 2014 Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

PMID 21931168 2011 Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.

PMID 23625533 2013 Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases.

PMID 21153446 2011 Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations.

PMID 19732863 2009 Acute infantile liver failure due to mutations in the TRMU gene.

rs118203990 in TRMU gene and LIVER FAILURE, INFANTILE, TRANSIENT PMID 19732863 2009 Acute infantile liver failure due to mutations in the TRMU gene.

PMID 23625533 2013 Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases.

PMID 25665837 2015 Hepatic Copper Accumulation: A Novel Feature in Transient Infantile Liver Failure Due to TRMU Mutations?

PMID 21931168 2011 Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.

rs387907022 in TRMU gene and Multiple congenital anomalies PMID 21153446 2011 Acute liver failure with subsequent cirrhosis as the primary manifestation of TRMU mutations.

PMID 19732863 2009 Acute infantile liver failure due to mutations in the TRMU gene.

PMID 23625533 2013 Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases.

PMID 25058219 2014 Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

PMID 21931168 2011 Reversible infantile respiratory chain deficiency is a unique, genetically heterogenous mitochondrial disease.

PMID 25665837 2015 Hepatic Copper Accumulation: A Novel Feature in Transient Infantile Liver Failure Due to TRMU Mutations?

PMID 25407320 2015 Reversible infantile mitochondrial diseases.