IRX6

IRX6 is a gene that encodes a member of the Iroquois homeobox gene family in humans. Members of this family are involved in pattern formation and cell fate determination during embryogenesis. The encoded protein has a homeobox DNA-binding domain and has been shown to regulate transcription of other genes during development.

Function

IRX6 is a member of the Iroquois homeobox gene family and plays a crucial role in the development of several organs. It is particularly important in the formation of the mammary gland and teeth. Mutations in this gene have been associated with non-syndromic tooth agenesis and autosomal recessive non-syndromic sensorineural deafness.

Clinical significance

Mutations in the IRX6 gene have been linked to Van der Woude syndrome 2, a rare disorder characterized by cleft lip and/or cleft palate, lip pits, and missing or misshapen teeth. This condition is inherited in an autosomal dominant manner.

Research

Research on the IRX6 gene is ongoing, with studies focusing on its role in organ development and its potential involvement in other diseases. For example, some studies suggest that IRX6 may play a role in breast cancer progression.

See also

• Homeobox
• Van der Woude syndrome
• Tooth agenesis
• Sensorineural deafness