IRX6
Description
The IRX6 (iroquois homeobox 6) is a protein-coding gene located on chromosome 16.
IRX6 is a protein encoded by the IRX6 gene in humans. It belongs to the Iroquois homeobox gene family, which plays multiple roles in vertebrate embryo pattern formation.
IRX6 is a transcription factor that binds to the iroquois binding site (IBS) motif of target genes to regulate gene expression. It can act as a transcriptional activator or repressor and modulates the expression of several genes, including RCVRN, VSX1, BHLHE22/BHLHB5 and TACR3/Nk3r. IRX6 is essential for the terminal differentiation of type 2, type 3a and possibly type 6 bipolar cells downstream of retinal bipolar cell specification.
IRX6 is also known as IRX-3, IRX7, IRXB3.
Associated Diseases
- hypoparathyroidism, familial isolated, 2
- oculocutaneous albinism type 3
- Griscelli syndrome type 3
- Tietz syndrome
- pseudohypoparathyroidism type 2
- uncombable hair syndrome
- Waardenburg syndrome, IIa 2F
- ermine phenotype
- Waardenburg syndrome type 2A
- Clouston syndrome
