Gene: EMC1
Alternate names for this Gene: CAVIPMR|KIAA0090
Gene Summary: This gene encodes a single-pass type I transmembrane protein, which is a subunit of the endoplasmic reticulum membrane protein complex (EMC). Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene.
Gene is located in Chromosome: 1
Location in Chromosome : 1p36.13
Description of this Gene: ER membrane protein complex subunit 1
Type of Gene: protein-coding
Gene: EMC1-AS1
Alternate names for this Gene: -
Gene Summary:
Gene is located in Chromosome: 1
Location in Chromosome : 1p36.13
Description of this Gene: EMC1 antisense RNA 1
Type of Gene: ncRNA
rs879253819 in
EMC1;EMC1-AS1 gene and
CEREBELLAR ATROPHY, VISUAL IMPAIRMENT, AND PSYCHOMOTOR RETARDATION
PMID 26942288 2016 Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
rs1553252938 in
EMC1;EMC1-AS1 gene and
Movement Disorders
PMID 23105016 2013 Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.
PMID 26942288 2016 Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
rs1553252938 in
EMC1;EMC1-AS1 gene and
Muscle hypotonia
PMID 23105016 2013 Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes.
PMID 26942288 2016 Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.