ERAL1
Era like 12S mitochondrial rRNA chaperone 1
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. [provided by RefSeq, Dec 2015]
Known Variants38 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs778235128 | 17:27,182,060 | C/T | — | uncertain significance |
| rs375224542 | 17:27,182,070 | G/C | — | uncertain significance |
| rs772920653 | 17:27,182,074 | G/A | — | uncertain significance |
| rs201411632 | 17:27,182,078 | C/T | — | uncertain significance |
| rs145551568 | 17:27,182,133 | G/A | — | likely benign |
| rs1463415487 | 17:27,182,185 | T/A | — | uncertain significance |
| rs148852381 | 17:27,182,203 | G/A | — | uncertain significance |
| rs557982939 | 17:27,182,215 | C/A | — | uncertain significance |
| rs778690393 | 17:27,182,224 | G/A | — | uncertain significance |
| rs2039224916 | 17:27,182,240 | G/T | — | uncertain significance |
| rs1170163356 | 17:27,182,297 | C/T | — | uncertain significance |
| rs9914988 | 17:27,183,104 | G/A | — | benign |
| rs9916866 | 17:27,183,155 | C/G | — | benign |
| rs2545157193 | 17:27,183,354 | T/A | — | uncertain significance |
| rs73986761 | 17:27,183,462 | G/A | — | benign |
| rs376341769 | 17:27,183,515 | C/T | — | benign |
| rs144746939 | 17:27,183,565 | G/A | — | likely benign |
| rs59068724 | 17:27,184,386 | A/T | — | — |
| rs62066838 | 17:27,184,533 | C/G | — | — |
| rs139024598 | 17:27,185,169 | A/G | — | likely benign |
| rs1363285891 | 17:27,185,394 | G/T | — | uncertain significance |
| rs2152642391 | 17:27,185,478 | A/T | — | uncertain significance |
| rs1131692170 | 17:27,185,500 | A/T | — | pathogenic |
| rs114192384 | 17:27,185,605 | G/A | — | benign |
| rs2039270533 | 17:27,185,664 | G/T | — | uncertain significance |
| rs201357781 | 17:27,185,772 | T/C | — | likely benign |
| rs775166713 | 17:27,185,784 | A/G | — | uncertain significance |
| rs2242345 | 17:27,185,827 | C/T | — | benign |
| rs147320768 | 17:27,186,032 | A/C | — | likely benign |
| rs761557622 | 17:27,186,052 | C/G | — | uncertain significance |
| rs771659077 | 17:27,186,059 | G/T | — | uncertain significance |
| rs373742961 | 17:27,186,128 | G/A | — | likely benign |
| rs9892502 | 17:27,186,478 | T/C | — | benign |
| rs2320588 | 17:27,186,584 | G/C | — | — |
| rs2320587 | 17:27,187,020 | T/G | upstream gene variant | — |
| rs1294952037 | 17:27,187,528 | T/G | — | uncertain significance |
| rs9279 | 17:27,187,636 | G/T | — | benign |
| rs6803 | 17:27,187,789 | C/T | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.