TUBGCP4
Function
Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome.
Involvement in disease
Microcephaly and chorioretinopathy, autosomal recessive, 3
MCCRP3
A disorder characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus. Variable ocular anomalies include microphthalmia, retinal folding, retinal detachment, optic nerve hypoplasia, absence of retinal vessels, round areas of chorioretinal atrophy, and attenuated electroretinogram. Most patients have mild developmental delay and mild learning difficulties.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the TUBGCP family.
Tissue Specificity
Ubiquitously expressed.
Cellular localization
- Cytoplasm
- Cytoskeleton
- Microtubule organizing center
- Centrosome
Alternative names
76P, GCP4, TUBGCP4, Gamma-tubulin complex component 4, GCP-4, hGCP4, Gamma-ring complex protein 76 kDa, h76p, hGrip76