EMC1 Chromosome 1
ER membrane protein complex subunit 1
Upload your DNA to see your personal genotypes for variants in EMC1.
What This Gene Does
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. [provided by RefSeq, Sep 2012]
Gene Info
Gene Group
ER membrane protein complex subunits
Locus Type
gene with protein product
Location
1p36.13
Ensembl
ENSG00000127463
Associated Conditions (13)
Global developmental delay
Cerebellar atrophy
Inborn genetic diseases
Retinal dystrophy
visual impairment
and psychomotor retardation
Ovarian serous cystadenocarcinoma
Lung cancer
Retinitis pigmentosa
EMC1-related disorder
Autosomal recessive retinitis pigmentosa
Obesity
Congenital anomaly of kidney and urinary tract
Key Variants
RS1267383375
Conflicting classifications of pathogenicity
Global developmental delay, Cerebellar atrophy, Global developmental delay
Health Risk
RS1323481821
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1439129239
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS144675935
Conflicting classifications of pathogenicity
Cerebellar atrophy, visual impairment, and psychomotor retardation
Health Risk
RS145741156
Conflicting classifications of pathogenicity
Health Risk
RS148338469
Conflicting classifications of pathogenicity
Cerebellar atrophy, visual impairment, and psychomotor retardation
Health Risk
RS149268308
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1553252938
Conflicting classifications of pathogenicity
Inborn genetic diseases, Cerebellar atrophy, visual impairment
Health Risk
RS201537299
Conflicting classifications of pathogenicity
Inborn genetic diseases, Retinal dystrophy, Inborn genetic diseases
Health Risk
RS2093442517
Conflicting classifications of pathogenicity
Inborn genetic diseases, Cerebellar atrophy, visual impairment
Health Risk
RS2275402
Conflicting classifications of pathogenicity
Retinal dystrophy, Inborn genetic diseases, Cerebellar atrophy
Health Risk
RS537594873
Conflicting classifications of pathogenicity
Inborn genetic diseases, Retinitis pigmentosa, Inborn genetic diseases
Health Risk
All Variants (95)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1220641407 | Health Risk | Pathogenic | — |
| RS1265411161 | Health Risk | Pathogenic | — |
| RS1270538282 | Health Risk | Pathogenic | — |
| RS1290319110 | Health Risk | Pathogenic | Cerebellar atrophy, visual impairment, and psychomotor retardation |
| RS1295003726 | Health Risk | Pathogenic | — |
| RS1296589338 | Health Risk | Pathogenic | — |
| RS1348913197 | Health Risk | Pathogenic | — |
| RS1359798259 | Health Risk | Pathogenic | — |
| RS1386384373 | Health Risk | Pathogenic | — |
| RS1424417218 | Health Risk | Pathogenic | — |
| RS1428618759 | Health Risk | Pathogenic | — |
| RS148538980 | Health Risk | Pathogenic | Obesity, Obesity |
| RS1558096194 | Health Risk | Pathogenic | EMC1-related disorder, EMC1-related disorder |
| RS200262244 | Health Risk | Pathogenic | — |
| RS2093533157 | Health Risk | Pathogenic | — |
| RS2093597511 | Health Risk | Pathogenic | — |
| RS2093618217 | Health Risk | Pathogenic | — |
| RS2151938056 | Health Risk | Pathogenic | — |
| RS2151947953 | Health Risk | Pathogenic | — |
| RS2151955874 | Health Risk | Pathogenic | — |
| RS2151958278 | Health Risk | Pathogenic | — |
| RS2151970377 | Health Risk | Pathogenic | — |
| RS2536718328 | Health Risk | Pathogenic | — |
| RS2536730722 | Health Risk | Pathogenic | — |
| RS2536746674 | Health Risk | Pathogenic | — |
| RS757025272 | Health Risk | Pathogenic | Retinal dystrophy, Cerebellar atrophy, visual impairment |
| RS762503667 | Health Risk | Pathogenic | Cerebellar atrophy, visual impairment, and psychomotor retardation |
| RS762750656 | Health Risk | Pathogenic | — |
| RS763993023 | Health Risk | Pathogenic | — |
| RS767221166 | Health Risk | Pathogenic | — |
| RS767324448 | Health Risk | Pathogenic | — |
| RS770207023 | Health Risk | Pathogenic | — |
| RS772637593 | Health Risk | Pathogenic | — |
| RS773033814 | Health Risk | Pathogenic | — |
| RS879253819 | Health Risk | Pathogenic | Cerebellar atrophy, visual impairment, and psychomotor retardation |
| RS901905420 | Health Risk | Pathogenic | — |
| RS1277233450 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS201271494 | Health Risk | Pathogenic/Likely pathogenic | Cerebellar atrophy, visual impairment, and psychomotor retardation |
| RS370952454 | Health Risk | Pathogenic/Likely pathogenic | Cerebellar atrophy, visual impairment, and psychomotor retardation |
| RS372717647 | Health Risk | Pathogenic/Likely pathogenic | Cerebellar atrophy, visual impairment, and psychomotor retardation |
| RS766168717 | Health Risk | Pathogenic/Likely pathogenic | Cerebellar atrophy, visual impairment, and psychomotor retardation |
| RS778017096 | Health Risk | Pathogenic/Likely pathogenic | Cerebellar atrophy, visual impairment, and psychomotor retardation |
| RS778470143 | Health Risk | Pathogenic/Likely pathogenic | Global developmental delay, Cerebellar atrophy, Global developmental delay |
| RS869320624 | Health Risk | Pathogenic/Likely pathogenic | Cerebellar atrophy, visual impairment, and psychomotor retardation |
| RS869320625 | Health Risk | Pathogenic/Likely pathogenic | Cerebellar atrophy, visual impairment, and psychomotor retardation |