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SLC6A19

Synonyms
B0AT1, HND
External resources
Summary
This gene encodes a system B(0) transmembrane protein that actively transports most neutral amino acids across the apical membrane of epithelial cells. Mutations in this gene may result in Hartnup disorder, an inherited disease with symptoms such as pellagra, cerebellar ataxia, and psychosis. The expression and function of B0AT1 (SLC6A19) in intestinal cells depends on the presence of the accessory protein angiotensin-converting enzyme 2 (ACE2) which, among other functions, acts as a chaperone for membrane trafficking of B0AT1. The ACE2 is also the cellular receptor for severe acute respiratory syndrome-coronavirus (SARS-CoV) and for SARS-CoV-2 that is causing the coronavirus 2019 (COVID-19) pandemic

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
39
Likely pathogenic
0
VUS
15,969
Likely benign
2,198
Benign
1,037

Patient phenotypes

Proportions of phenotypes among 39 patients carrying pathogenic or likely pathogenic variants on SLC6A19 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
25.6%
Abnormality of the eye
17.9%
Abnormality of the ear
15.4%
Abnormality of head or neck
12.8%
Abnormality of the musculoskeletal system
12.8%
Abnormality of the digestive system
10.3%
Abnormality of the genitourinary system
10.3%
Growth abnormality
10.3%
Abnormality of blood and blood-forming tissues
5.1%
Abnormality of the cardiovascular system
5.1%
Abnormality of limbs
2.6%
Abnormality of prenatal development or birth
2.6%
Abnormality of the immune system
2.6%
Abnormality of the integument
2.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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