Gene: IRF6

Alternate names for this Gene: LPS|OFC6|PIT|PPS|PPS1|VWS|VWS1

Gene Summary: 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. The encoded protein may be a transcriptional activator. Mutations in this gene can cause van der Woude syndrome and popliteal pterygium syndrome. Mutations in this gene are also associated with non-syndromic orofacial cleft type 6. Alternate splicing results in multiple transcript variants.

Gene is located in Chromosome: 1

Location in Chromosome : 1q32.2

Description of this Gene: interferon regulatory factor 6

Type of Gene: protein-coding

Gene: C1orf74

Alternate names for this Gene: URLC4

Gene Summary:

Gene is located in Chromosome: 1

Location in Chromosome : 1q32.2

Description of this Gene: chromosome 1 open reading frame 74

Type of Gene: protein-coding

rs1044516 in IRF6;C1orf74 gene and Cleft upper lip PMID 20436469 2010 A genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.