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DGAT1

Synonyms
ARAT, ARGP1, DGAT, DIAR7
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
17
Likely pathogenic
0
VUS
55,880
Likely benign
15,035
Benign
10

Patient phenotypes

Proportions of phenotypes among 17 patients carrying pathogenic or likely pathogenic variants on DGAT1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
41.2%
Abnormality of the eye
35.3%
Abnormality of the cardiovascular system
23.5%
Abnormality of head or neck
17.6%
Abnormality of the digestive system
17.6%
Abnormality of the immune system
11.8%
Abnormality of the integument
11.8%
Abnormality of the musculoskeletal system
11.8%
Abnormality of blood and blood-forming tissues
5.9%
Abnormality of limbs
5.9%
Abnormality of the endocrine system
5.9%
Abnormality of the genitourinary system
5.9%
Abnormality of the respiratory system
5.9%
Abnormality of the voice
5.9%
Growth abnormality
5.9%
Neoplasm
5.9%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the ear
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

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