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
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