Definition:Interferon regulatory factor 6
Official Symbol:IRF6
Chromosome:1
Location : 1q32.3-q41
Gene Size: 18218 bp complement(208027885..208046102)
No Exons: 9
Description:
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.
Disease :
Mutations in this gene can cause van der Woude syndrome and popliteal pterygium syndrome. This protein is involved in palate formation.A shortage of the IRF6 protein affects the development and maturation of tissues in the skull and face. These abnormalities underlie the signs and symptoms of van der Woude syndrome, including cleft lip, cleft palate (an opening in the roof of the mouth), and pits or mounds in the lower lip.
Popliteal Pterygium syndrome
Mutations in the IRF6 gene that cause popliteal pterygium syndrome may change the transcription factor's effects on the activity of certain genes. This affects the development and maturation of tissues in the face, skin, and genitals, resulting in the facial and genital abnormalities, skin webbing, and fusion of the fingers or toes (syndactyly) seen in popliteal pterygium syndrome.
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