FOXE1

(redirected from FKHL15)

FOXE1

An intronless gene on chromosome 9q22 that encodes a member of the forkhead family of transcription factors, specifically a thyroid transcription factor, which plays a crucial role in thyroid morphogenesis.

Molecular pathology
FOXE1 mutations are linked to congenital hypothyroidism and cleft palate with thyroid dysgenesis.
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References in periodicals archive ?
Smith et al., "A novel missense mutation in human TTF-2 (FKHL15) gene associated with congenital hypothyroidism but not athyreosis," Journal of Clinical Endocrinology and Metabolism, vol.
FOXE1 gene (also called TTF-2 or FKHL15) is located on chromosome 9q22.33 and contains a single exon distributed along 3,461 bp.
Frischauf, "FKHL15, a new human member of the forkhead gene family located on chromosome 9q22," Genomics, vol.
In a minority of these patients, the congenital hypothyroidism is associated with mutations in genes responsible for the development or growth of thyroid follicular cells: thyroid transcription factor 1 (TTF-1; also known as TITF1, NKX2-1, or T/EBP) (3,4), thyroid transcription factor 2 (TTF-2; also known as TITF2, FOXE1, or FKHL15) (5), paired box transcription factor 8 (PAX-8) (6-9), thyrotropin [(TSH).sup.3] (10,11), and TSH receptor (12-14).