CTNNA2
Function
May function as a linker between cadherin adhesion receptors and the cytoskeleton to regulate cell-cell adhesion and differentiation in the nervous system (By similarity). Required for proper regulation of cortical neuronal migration and neurite growth (PubMed:30013181). It acts as a negative regulator of Arp2/3 complex activity and Arp2/3-mediated actin polymerization (PubMed:30013181). It thereby suppresses excessive actin branching which would impair neurite growth and stability (PubMed:30013181). Regulates morphological plasticity of synapses and cerebellar and hippocampal lamination during development. Functions in the control of startle modulation (By similarity).
Involvement in disease
Cortical dysplasia, complex, with other brain malformations 9
CDCBM9
An autosomal recessive disorder characterized by neurodevelopmental delay apparent from early infancy, acquired microcephaly, hypotonic cerebral palsy, inability to ambulate or speak, and intractable seizures. Brain imaging shows pachygyria with severe cortical gray matter thickening, paucity of gyri without an obvious posterior-anterior gradient or focal dysplasias, hypogenesis of the corpus callosum, and cerebellar hypoplasia.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the vinculin/alpha-catenin family.
Tissue Specificity
Expressed in neural tissues, with strongest expression in fetal and adult brain. Expressed in the developing cortical plate and marginal zone of 20-week-old human fetal brain.
Cellular localization
- Cell membrane
- Peripheral membrane protein
- Cytoplasmic side
- Cytoplasm
- Cytoplasm
- Cytoskeleton
- Cell junction
- Adherens junction
- Cell projection
- Axon
- Nucleus
Alternative names
CAPR, CTNNA2, Catenin alpha-2, Alpha N-catenin, Alpha-catenin-related protein