Reference Gene
| Gene name | Alias | Species | Exons | Type | Paralogs | EC number | OMIM |
|---|---|---|---|---|---|---|---|
| GSDME gasdermin E | DFNA5 , ICERE-1 | Homo sapiens | 15 | protein-coding | 608798 |
Summary
Hearing impairment is a heterogeneous condition with over 40 loci described. The protein encoded by this gene is expressed in fetal cochlea, however, its function is not known. Nonsyndromic hearing impairment is associated with a mutation in this gene. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Loss events - GSDME (2 results)
| GL_ID | Species | Order | Gene Loss Mechanism | Loss Type | Lineage Specific | Citation |
|---|---|---|---|---|---|---|
| GL_4PSUTB | Physeter catodon | Artiodactyla | LOF (frameshift, premature stop, ss) | Full | No | 10.1038/s41598-017-17782-4 |
| GL_RNRTEF | Balaenoptera acutorostrata | Artiodactyla | LOF (frameshift, premature stop, ss) | Full | No | 10.1038/s41598-017-17782-4 |