Gene: EME2

Alternate names for this Gene: SLX2B|gs125

Gene Summary: EME2 forms a heterodimer with MUS81 (MIM 606591) that functions as an XPF (MIM 278760)-type flap/fork endonuclease in DNA repair (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008]. ##Evidence-Data-START## Transcript exon combination :: EF452422.1 [ECO:0000332] RNAseq introns :: single sample supports all introns SAMEA1968540, SAMEA2145893 [ECO:0000348] ##Evidence-Data-END## ##RefSeq-Attributes-START## RefSeq Select criteria :: based on conservation, expression, longest protein ##RefSeq-Attributes-END##

Gene is located in Chromosome: 16

Location in Chromosome : 16p13.3

Description of this Gene: essential meiotic structure-specific endonuclease subunit 2

Type of Gene: protein-coding

Gene: MRPS34

Alternate names for this Gene: COXPD32|MRP-S12|MRP-S34|MRPS12

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 28S subunit protein. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 16

Location in Chromosome : 16p13.3

Description of this Gene: mitochondrial ribosomal protein S34

Type of Gene: protein-coding

Gene: NME3

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs1161932777 in EME2;MRPS34;NME3 gene and Leigh Disease PMID 2877793 1986 Specific binding of Leu-enkephalin to small and large intestinal epithelial cells from guinea-pig.