PRR12
Involvement in disease
Neuroocular syndrome 1
NOC1
An autosomal dominant form of neuroocular syndrome, a group of disorders characterized by developmental delay, impaired intellectual development and ocular anomalies as primary findings. Variable eye abnormalities include anophthalmia, microphthalmia, and coloboma. Other common features include congenital heart and kidney defects, hypotonia, failure to thrive, and microcephaly.
None
The disease is caused by variants affecting the gene represented in this entry.
Cellular localization
- Nucleus
- Postsynaptic density
- Synapse
- Synaptosome
Alternative names
KIAA1205, PRR12, Proline-rich protein 12