Endoplasmic Reticulum Membrane Protein Complex, Subunit 1

Alternative Names

  • EMC1
  • ER Membrane Protein Complex, Subunit 1
  • KIAA0090
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OMIM Number

616846

Gene Map Locus
1p36.13

Description

The Endoplasmic Reticulum (ER) membrane protein complex is an important transmembrane complex involved in protein folding, ER-mitochondria crosstalk and speculatively, the elimination of misfolded membrane proteins.  Aberrations in these processes have been found to result in neurodegeneration.  The EMC1 gene encodes a transmembrane protein that forms one of the ten subunits of the ER protein complex.

Mutations in this gene have been associated with Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation (CAVIPMR), a recently diagnosed neurodegenerative disorder.  The gene has also been speculated to be associated with Retinitis Pigmentosa, although this is yet to be confirmed.  

Molecular Genetics

The EMC1 gene is located on the short arm of chromosome 1.  It spans a length of 35.9 kb and consists of 24 exons.  The protein encoded by EMC1 has a mass of 111 kDa and is made up of 993 amino acids.  The protein contains two conserved domains: a quinoprotein alcohol dehydrogenase-like domain and a domain of unknown function.  Multiple alternatively spliced transcript variants encoding different isoforms of the EMC1 protein have been found.  EMC1 is expressed ubiquitously in the body.  

So far, two homozygous missense mutations and a frameshift mutation in this gene have been found to be associated with CAVIPMR.

Epidemiology in the Arab World

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Other Reports

Saudi Arabia

Harel et al. (2016) analyzed two brothers suffering from global developmental delay and speech delay. The siblings (aged 12 and 10), were born to consanguineous parents from Saudi Arabia.  The younger sibling also had retrognathia, esotropia, hyperopia, astigmatism and truncal hypotonia.  He suffered from cerebellar atrophy and a foreshortened corpus callosum.  Whole exome sequencing found a homozygous missense variant (c.2602G>A, p.Gly868Arg) in the EMC1 gene.  The variant lies in the conserved, as-yet-uncharacterized domain of unknown function, DUF1620.  The mutation was predicted to be deleterious and had a CADD phred-like score of 33. 

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