Gene: ERAL1

Alternate names for this Gene: CEGA|ERA|ERA-W|ERAL1A|ERAL1B|H-ERA|HERA-A|HERA-B|PRLTS6

Gene Summary: The protein encoded by this gene is a GTPase that localizes to the mitochondrion. The encoded protein binds to the 3' terminal stem loop of 12S mitochondrial rRNA and is required for proper assembly of the 28S small mitochondrial ribosomal subunit. Deletion of this gene has been shown to cause mitochondrial dysfunction, growth retardation, and apoptosis. Several transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 17

Location in Chromosome : 17q11.2

Description of this Gene: Era like 12S mitochondrial rRNA chaperone 1

Type of Gene: protein-coding

rs2242345 in ERAL1 gene and Corpuscular Hemoglobin Concentration Mean PMID 23222517 2012 Seventy-five genetic loci influencing the human red blood cell.