Ontology highlight
ABSTRACT:
SUBMITTER: Shin DS
PROVIDER: S-EPMC3012536 | biostudies-literature | 2010 Dec
REPOSITORIES: biostudies-literature
Shin Daniel Sanghoon DS Min Sang Hee SH Russell Laura L Zhao Rongbao R Fiser Andras A Goldman I David ID
Blood 20100830 24
The proton-coupled folate transporter (PCFT; SLC46A1) mediates folate transport into enterocytes in the proximal small intestine; pcft loss-of-function mutations are the basis for hereditary folate malabsorption. The current study explored the roles of Asp residues in PCFT function. A novel, homozygous, loss-of-function mutation, D156Y, was identified in a child of Pakistani origin with hereditary folate malabsorption. Of the 6 other conserved Asp residues, only one, D109, is shown to be require ...[more]