ERMARD gene

ER membrane associated RNA degradation

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

From NCBI Gene:

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]

From UniProt:

May play a role in neuronal migration during embryonic development.

From NCBI Gene:

  • Periventricular nodular heterotopia 6

From UniProt:

Periventricular nodular heterotopia 6 (PVNH6): A form of periventricular nodular heterotopia, a disorder resulting from a defect in the pattern of neuronal migration in which ectopic collections of neurons lie along the lateral ventricles of the brain or just beneath, contiguously or in isolated patches. PVNH6 results in delayed psychomotor development, delayed speech, strabismus, and onset of seizures with hypsarrhythmia in early infancy. [MIM:615544]

Cytogenetic Location: 6q27, which is the long (q) arm of chromosome 6 at position 27

Molecular Location: base pairs 169,751,622 to 169,781,584 on chromosome 6 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 6q27, which is the long (q) arm of chromosome 6 at position 27
  • C6orf70
  • dJ266L20.3
  • PVNH6