ERAL1 gene

Era like 12S mitochondrial rRNA chaperone 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Probable GTPase that plays a role in the mitochondrial ribosomal small subunit assembly. Specifically binds the 12S mitochondrial rRNA (12S mt-rRNA) to a 33 nucleotide section delineating the 3' terminal stem-loop region. May act as a chaperone that protects the 12S mt-rRNA on the 28S mitoribosomal subunit during ribosomal small subunit assembly.

From NCBI Gene:

  • Perrault syndrome 6

From UniProt:

Perrault syndrome 6 (PRLTS6): A form of Perrault syndrome, a sex-influenced disorder characterized by sensorineural deafness in both males and females, and ovarian dysgenesis in females. Affected females have primary amenorrhea, streak gonads, and infertility, whereas affected males show normal pubertal development and are fertile. PRLTS6 inheritance is autosomal recessive. [MIM:617565]

Cytogenetic Location: 17q11.2, which is the long (q) arm of chromosome 17 at position 11.2

Molecular Location: base pairs 28,855,016 to 28,861,061 on chromosome 17 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 17q11.2, which is the long (q) arm of chromosome 17 at position 11.2
  • CEGA
  • ERA
  • ERA-W
  • ERAL1A
  • ERAL1B
  • H-ERA
  • HERA-A
  • HERA-B
  • PRLTS6