DGAT1 Chromosome 8
Diacylglycerol O-acyltransferase 1
Upload your DNA to see your personal genotypes for variants in DGAT1.
What This Gene Does
This gene encodes an multipass transmembrane protein that functions as a key metabolic enzyme. The encoded protein catalyzes the conversion of diacylglycerol and fatty acyl CoA to triacylglycerol. This enzyme can also transfer acyl CoA to retinol. Activity of this protein may be associated with obesity and other metabolic diseases. [provided by RefSeq, Jul 2013]
Gene Info
Gene Group
"Membrane bound O-acyltransferase family|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
8q24.3
Ensembl
ENSG00000185000
Associated Conditions (9)
Congenital diarrhea 7 with exudative enteropathy
Inborn genetic diseases
DGAT1-related disorder
Diarrhea
Lung cancer
Clear cell carcinoma of kidney
Colon adenocarcinoma
Sarcoma
See cases
Key Variants
RS138248019
Conflicting classifications of pathogenicity
Congenital diarrhea 7 with exudative enteropathy, Congenital diarrhea 7 with exudative enteropathy
Health Risk
RS1393465924
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS146196839
Conflicting classifications of pathogenicity
DGAT1-related disorder, DGAT1-related disorder
Health Risk
RS199537660
Conflicting classifications of pathogenicity
Health Risk
RS377729741
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS541041759
Conflicting classifications of pathogenicity
Congenital diarrhea 7 with exudative enteropathy, DGAT1-related disorder, Congenital diarrhea 7 with exudative enteropathy
Health Risk
RS563377054
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS781942618
Conflicting classifications of pathogenicity
Congenital diarrhea 7 with exudative enteropathy, Congenital diarrhea 7 with exudative enteropathy
Health Risk
RS782420668
Conflicting classifications of pathogenicity
Congenital diarrhea 7 with exudative enteropathy, Congenital diarrhea 7 with exudative enteropathy
Health Risk
RS782575471
Conflicting classifications of pathogenicity
Health Risk
RS782739596
Conflicting classifications of pathogenicity
Congenital diarrhea 7 with exudative enteropathy, Diarrhea, Congenital diarrhea 7 with exudative enteropathy
Health Risk
RS1239628575
Likely pathogenic
Health Risk
All Variants (65)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2488952501 | Health Risk | Pathogenic | — |
| RS2488952512 | Health Risk | Pathogenic | — |
| RS2488953064 | Health Risk | Pathogenic | — |
| RS2488957018 | Health Risk | Pathogenic | — |
| RS2488972726 | Health Risk | Pathogenic | — |
| RS2488972740 | Health Risk | Pathogenic | — |
| RS2488972766 | Health Risk | Pathogenic | — |
| RS782181643 | Health Risk | Pathogenic | — |
| RS782220518 | Health Risk | Pathogenic | — |
| RS782349298 | Health Risk | Pathogenic | — |
| RS1554847269 | Health Risk | Pathogenic/Likely pathogenic | DGAT1-related disorder, Congenital diarrhea 7 with exudative enteropathy, Sarcoma |
| RS1817352625 | Health Risk | Pathogenic/Likely pathogenic | Congenital diarrhea 7 with exudative enteropathy, Congenital diarrhea 7 with exudative enteropathy |
| RS2488948958 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS372817613 | Health Risk | Pathogenic/Likely pathogenic | Congenital diarrhea 7 with exudative enteropathy, Congenital diarrhea 7 with exudative enteropathy |
| RS782577883 | Health Risk | Pathogenic/Likely pathogenic | Congenital diarrhea 7 with exudative enteropathy, See cases, Congenital diarrhea 7 with exudative enteropathy |