Gene: MRPL43

Alternate names for this Gene: L43mt|MRP-L43|bMRP36a

Gene Summary: Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. This gene and the gene for a semaphorin class 4 protein (SEMA4G) overlap at map location 10q24.31 and are transcribed in opposite directions. Sequence analysis identified multiple transcript variants encoding at least four different protein isoforms.

Gene is located in Chromosome: 10

Location in Chromosome : 10q24.31

Description of this Gene: mitochondrial ribosomal protein L43

Type of Gene: protein-coding

Gene: TWNK

Alternate names for this Gene: ATXN8|C10orf2|IOSCA|MTDPS7|PEO|PEO1|PEOA3|PRLTS5|SANDO|SCA8|TWINL

Gene Summary: This gene encodes a hexameric DNA helicase which unwinds short stretches of double-stranded DNA in the 5' to 3' direction and, along with mitochondrial single-stranded DNA binding protein and mtDNA polymerase gamma, is thought to play a key role in mtDNA replication. The protein localizes to the mitochondrial matrix and mitochondrial nucleoids. Mutations in this gene cause infantile onset spinocerebellar ataxia (IOSCA) and progressive external ophthalmoplegia (PEO) and are also associated with several mitochondrial depletion syndromes. Alternative splicing results in multiple transcript variants encoding distinct isoforms.

Gene is located in Chromosome: 10

Location in Chromosome : 10q24.31

Description of this Gene: twinkle mtDNA helicase

Type of Gene: protein-coding

rs80356542 in MRPL43;TWNK gene and Infantile onset spinocerebellar ataxia PMID 17722119 2007 Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion.

PMID 19853444 2009 Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure.

PMID 17921179 2007 Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.

PMID 22353293 2012 Identification of a novel Twinkle mutation in a family with infantile onset spinocerebellar ataxia by whole exome sequencing.

PMID 16135556 2005 Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky.

rs111033573 in MRPL43;TWNK gene and Mitochondrial Diseases PMID 28812649 2017 Decreased male reproductive success in association with mitochondrial dysfunction.

rs111033573 in MRPL43;TWNK gene and Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 PMID 19428252 2009 Molecular analysis in a family presenting with a mild form of late-onset autosomal dominant chronic progressive external ophthalmoplegia.

PMID 12921794 2003 A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia.

PMID 18575922 2008 Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.

PMID 20479361 2010 The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO.

PMID 12163192 2002 Clinical and molecular features of adPEO due to mutations in the Twinkle gene.

PMID 17614277 2007 Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicase.

PMID 19353676 2009 Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease.

PMID 11431692 2001 Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria.

PMID 18396044 2008 Phenotype and clinical course in a family with a new de novo Twinkle gene mutation.

PMID 20880070 2011 TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review.

PMID 16639411 2006 Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.

PMID 15668446 2005 Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism.

PMID 24018892 2013 Longitudinal clinical follow-up of a large family with the R357P Twinkle mutation.

PMID 20659899 2010 Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity.