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Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder
Robert Kleta1, Elisa Romeo, Zorica Ristic
1Medical Genetics Branch, 10 Center Drive, MSC 1851, Building 10, Room 10C-107, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Nature Genetics
|August 3, 2004
Summary
Hartnup disorder, a genetic condition affecting amino acid transport, is caused by mutations in the SLC6A19 gene. This gene encodes the Hartnup transporter, crucial for nutrient absorption in the kidneys and intestines.
Area of Science:
- Genetics
- Molecular Biology
- Human Physiology
Background:
- Hartnup disorder is an autosomal recessive condition impacting neutral amino acid transport.
- Symptoms include pellagra-like rashes, ataxia, and psychosis due to impaired nutrient absorption in the gut and kidneys.
Purpose of the Study:
- To identify the gene responsible for Hartnup disorder.
- To characterize the function and expression of the identified gene product.
Main Methods:
- Homozygosity mapping in affected families to pinpoint the causative gene region.
- Isolation and characterization of the human homolog of the mouse amino acid transporter B(0)AT1.
- Mutation analysis of the candidate gene in affected individuals.
Main Results:
- The critical region for Hartnup disorder was localized to chromosome 5p15.
- The human gene SLC6A19, a homolog of B(0)AT1, was identified.
- Mutations in SLC6A19 were found in families with Hartnup disorder.
- SLC6A19 encodes a neutral amino acid transporter primarily expressed in the intestine and renal proximal tubules.
Conclusions:
- Mutations in SLC6A19 are the cause of Hartnup disorder.
- The SLC6A19 gene product, the Hartnup transporter, plays a vital role in neutral amino acid absorption.