SVBP
Function
Enhances the tyrosine carboxypeptidase activity of VASH1 and VASH2, thereby promoting the removal of the C-terminal tyrosine residue of alpha-tubulin (PubMed:29146869, PubMed:31171830, PubMed:31235910, PubMed:31235911, PubMed:31270470, PubMed:31324789). This activity is critical for spindle function and accurate chromosome segregation during mitosis since microtubule detyronisation regulates mitotic spindle length and postioning (PubMed:31171830). Also required to enhance the solubility and secretion of VASH1 and VASH2 (PubMed:20736312, PubMed:27879017, PubMed:30607023). Plays a role in axon and excitatory synapse formation (PubMed:31235911).
Involvement in disease
Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly
NEDAHM
An autosomal recessive neurodevelopmental disorder characterized by intellectual disability, microcephaly, ataxia, and muscular hypotonia.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the SVBP family.
Cellular localization
- Cytoplasm
- Secreted
- Cytoplasm
- Cytoskeleton
- Detected both intracellularly and extracellularly (By similarity). Within cells, localizes mainly to the apical part of the cell (By similarity).
Alternative names
CCDC23, SVBP, Small vasohibin-binding protein, Coiled coil domain-containing protein 23