IRF6
From Wikipedia, the free encyclopedia
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interferon regulatory factor 6
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| Identifiers | |
| Symbol | IRF6 |
| HUGO | 6121 |
| Entrez | 3664 |
| OMIM | 607199 |
| RefSeq | NM_006147 |
| UniProt | O14896 |
| Other data | |
| Locus | Chr. 1 q32.3-q41 |
IRF6 is a gene whose function 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. Family members share a highly-conserved N-terminal helix-turn-helix DNA-binding domain and a less conserved C-terminal protein-binding domain.
A mutation of the IRF6 gene can lead to popliteal pterygium syndrome or the related van der Woude syndrome. The phenotypic heterogeneity of these disorders is due to different types of IRF6 mutation.
