SIX6
Function
May be involved in eye development.
Involvement in disease
Optic disk anomalies with retinal and/or macular dystrophy
ODRMD
An ocular disorder characterized by optic nerve dysplasia, optic disk anomalies, chorioretinal dystrophy and macular atrophy. Some patients have microphthalmia.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the SIX/Sine oculis homeobox family.
Tissue Specificity
Expressed in the developing and adult retina. Also expressed in the hypothalamic and the pituitary regions.
Cellular localization
- Nucleus
Alternative names
OPTX2, SIX9, SIX6, Homeobox protein SIX6, Homeodomain protein OPTX2, Optic homeobox 2, Sine oculis homeobox homolog 6