Gene Symbol | ERMARD |
Entrez Gene ID | 55780 |
Full Name | ER membrane associated RNA degradation |
Synonyms | C6orf70,PVNH6,dJ266L20.3 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene contains 2 transmembrane domains near the C-terminus and is localized in the endoplasmic reticulum. Knockout of this gene in developing rat brain showed that it may be involved in neuronal migration. Mutations in this gene are associated with periventricular nodular heterotopia-6 (PVNH6). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2013]. |
Disorder MIM: | |
Disorder Html: | ?Periventricular nodular heterotopia 6, 615544 (3) |