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Article

Mutations in folate transporter genes and risk for human myelomeningocele.

American journal of medical genetics. Part A - 1 Nov 2017

Findley Tina O, Tenpenny Joy C, O'Byrne Michelle R, Morrison Alanna C, Hixson James E, Northrup Hope, Au Kit Sing

Abstract excerpt

The molecular mechanisms linking folate deficiency and neural tube defect (NTD) risk in offspring remain unclear. Folate transporters (SLC19A1, SLC46A1, SLC25A32, and FOLH1) and folate receptors (FOLR1, FOLR2, and FOLR3) are suggested to play essential roles in transporting folate from maternal intestinal lumen to the developing embryo. Loss of function variants in these genes may affect folate availability and...

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Source

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Identifiers

PMID: 28948692
DOI: 10.1002/ajmg.a.38472
PMCID: PMC5650522

Genes

FOLR3
FOLH1
FOLR1
FOLR2

Variants

Provenance

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