Hereditary folate malabsorption due to a mutation in the external gate of the proton-coupled folate transporter SLC46A1-Reference-Cited by-同舟云学术

Hereditary folate malabsorption due to a mutation in the external gate of the proton-coupled folate transporter SLC46A1

Published:2018-01-05 Issue:1 Volume:2 Page:61-68
ISSN:2473-9529
Container-title:Blood Advances
language:en
Short-container-title:

Author:

Aluri Srinivas¹²^ORCID,Zhao Rongbao¹²,Lubout Charlotte³⁴,Goorden Susanna M. I.⁵⁶,Fiser Andras⁷⁸,Goldman I. David¹²

Affiliation:

1. Department of Pharmacology and

2. Department of Medicine, Albert Einstein College of Medicine, Bronx, NY;

3. Department of Pediatrics,

4. Division of Metabolic Disorders,

5. Department of Clinical Chemistry, and

6. Laboratory Genetic Metabolic Diseases, Academic Medical Center, University Hospital of Amsterdam, Amsterdam, The Netherlands; and

7. Department of Biochemistry and

8. Department of Systems Biology, Albert Einstein College of Medicine, Bronx, NY

Abstract

Key Points An N411K mutation in the external gate of the proton-coupled folate transporter within the aqueous channel results in impaired function. The N411K mutation produces a substrate-specific defect in transport, resulting in hereditary folate malabsorption.

Publisher

American Society of Hematology

Subject

Hematology

Link

http://ashpublications.org/bloodadvances/article-pdf/2/1/61/879714/advances012690.pdf

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5. A P425R mutation of the proton-coupled folate transporter causing hereditary folate malabsorption produces a highly selective alteration in folate binding;Shin;Am J Physiol Cell Physiol,2012

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