TFF3

Chr 21

trefoil factor 3

Also known as: ITF, P1B, TFI

NCBI Gene: 7033 ENSG00000160180 UniProt: Q07654

TFF3 encodes trefoil factor 3, a secretory protein expressed in intestinal goblet cells that maintains and repairs intestinal mucosa by promoting epithelial cell mobility during healing processes. Mutations cause congenital diarrhea with intestinal atresias, malrotations, and dysmotility following autosomal recessive inheritance. The gene shows low constraint to loss-of-function variation, consistent with recessive disease requiring biallelic mutations.

ResearchSummary from RefSeq, UniProt

Members of the trefoil family are characterized by having at least one copy of the trefoil motif, a 40-amino acid domain that contains three conserved disulfides. They are stable secretory proteins expressed in gastrointestinal mucosa. Their functions are not defined, but they may protect the mucosa from insults, stabilize the mucus layer and affect healing of the epithelium. This gene is expressed in goblet cells of the intestines and colon. This gene and two other related trefoil family member genes are found in a cluster on chromosome 21. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Active trials

108

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.59

LOEUF

Multiple*

Mechanism· predicted