Interferon Regulatory Factor 6 (IRF6)

VWS; LPS; OFC6; PPS; PIT

SPN	U884
HGNC	6121
MGI	1859211
PubMed	16096995
RGD	1309645
UniProt	O14896
Wiki	IRF6

IRF6 isa member of the interferon regulatory transcription factor (IRF) family. Family members share a highly-conserved N-terminal helix-turn-helix DNA-binding domain and a less conserved C-terminal protein-binding domain.The function of IRF6 is related to the formation of connective tissue, for example that of the palate. This gene encodes a member of the interferon regulatory transcription factor (IRF) family.A mutation of the IRF6 gene can lead to van der Woude syndrome or the related popliteal pterygium syndrome. These disorders are caused by mutations in the IRF6 gene and some of the phenotypic heterogeneity is due to different types of IRF6 mutations.One explanation for this phenotypic variation between syndromes is based on a differential impact on the structure of the dimerized mutant proteins.

Reference

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