Gene: RMND1

Alternate names for this Gene: C6orf96|COXPD11|RMD1|bA351K16|bA351K16.3

Gene Summary: The protein encoded by this gene belongs to the evolutionary conserved sif2 family of proteins that share the DUF155 domain in common. This protein is thought to be localized in the mitochondria and involved in mitochondrial translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-11. Alternatively spliced transcript variants have been found for this gene.

Gene is located in Chromosome: 6

Location in Chromosome : 6q25.1

Description of this Gene: required for meiotic nuclear division 1 homolog

Type of Gene: protein-coding

rs9397403 in RMND1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs397515421 in RMND1 gene and COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 PMID 25604853 2015 RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement.

PMID 23022098 2012 An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect.

PMID 23022099 2012 Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.

PMID 26238252 2016 Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?

rs1554340243 in RMND1 gene and Dysmorphic features PMID 26395190 2016 Hearing impairment and renal failure associated with RMND1 mutations.

PMID 18835491 2008 Neonatal mitochondrial encephaloneuromyopathy due to a defect of mitochondrial protein synthesis.

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

PMID 23022099 2012 Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.

PMID 23022098 2012 An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect.

PMID 26238252 2016 Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?

PMID 27412952 2016 The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.

PMID 25604853 2015 RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement.

rs115079861 in RMND1 gene and Mitochondrial Diseases PMID 27412952 2016 The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.

rs115079861 in RMND1 gene and Muscle hypotonia PMID 26395190 2016 Hearing impairment and renal failure associated with RMND1 mutations.

PMID 23022098 2012 An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect.

PMID 18835491 2008 Neonatal mitochondrial encephaloneuromyopathy due to a defect of mitochondrial protein synthesis.

PMID 27412952 2016 The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.

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

PMID 23022099 2012 Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.

PMID 25604853 2015 RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement.

PMID 26238252 2016 Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: Expanding the Clinical Spectrum of RMND1?

rs139696728 in RMND1 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs139696728 in RMND1 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.