TUBGCP2

Gamma-tubulin complex is essential for microtubule nucleation at the centrosome.

Full Name

Tubulin, Gamma Complex Associated Protein 2

Function

Gamma-tubulin complex is necessary for microtubule nucleation at the centrosome. Plays a role in neuronal migration.

Biological Process

Biological Process brain development Source:UniProtKB1 Publication
Biological Process cytoplasmic microtubule organization Source:GO_Central1 Publication
Biological Process meiotic cell cycle Source:GO_Central1 Publication
Biological Process microtubule nucleation Source:GO_Central1 Publication
Biological Process mitotic cell cycle Source:GO_Central1 Publication
Biological Process neuron migration Source:UniProtKB1 Publication
Biological Process protein-containing complex assembly Source:ProtInc1 Publication
Biological Process spindle assembly Source:GO_Central1 Publication

Cellular Location

Cytoplasm, cytoskeleton, microtubule organizing center, centrosome

Involvement in disease

Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures (PAMDDFS):
An autosomal recessive disorder characterized by global developmental delay, variably impaired intellectual development, speech delay, facial dysmorphism, microcephaly, and varying degrees of cortical malformations including pachygyria, thin corpus callosum and subcortical band heterotopia. Most patients have generalized seizures.