ERAL1 Chromosome 17

Era like 12S mitochondrial rRNA chaperone 1

1 variant 1 Health Risk

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What This Gene Does

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. [provided by RefSeq, Dec 2015]

Associated Conditions (2)

Perrault syndrome 6

Perrault syndrome

Key Variants

RS1131692170

Pathogenic

Perrault syndrome 6, Perrault syndrome, Perrault syndrome 6

Health Risk

All Variants (1)

RSID	Category	Clinical Significance	Conditions
RS1131692170	Health Risk	Pathogenic	Perrault syndrome 6, Perrault syndrome, Perrault syndrome 6