APC2
Developmental stage
Expressed in fetal brain.
Function
Stabilizes microtubules and may regulate actin fiber dynamics through the activation of Rho family GTPases (PubMed:25753423). May also function in Wnt signaling by promoting the rapid degradation of CTNNB1 (PubMed:10021369, PubMed:11691822, PubMed:9823329).
Involvement in disease
Intellectual developmental disorder, autosomal recessive 74
MRT74
A disorder characterized by intellectual impairment, macrocephaly, and dysmorphic features. Epilepsy with eyelid myoclonus has also been reported.
None
The disease is caused by variants affecting the gene represented in this entry.
Cortical dysplasia, complex, with other brain malformations 10
CDCBM10
An autosomal recessive disorder of aberrant neuronal migration during brain development. CDCBM10 is clinically characterized by onset in infancy of global developmental delay, impaired intellectual development, seizures, inability to ambulate, and absent language. Brain imaging shows lissencephaly, cortical dysplasia, subcortical heterotopia, and paucity of white matter.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the adenomatous polyposis coli (APC) family.
Tissue Specificity
Widely expressed (at protein level). Specifically expressed in the CNS.
Cellular localization
- Cytoplasm
- Cytoskeleton
- Golgi apparatus
- Cytoplasm
- Cytoplasm
- Perinuclear region
- Associated with actin filaments (PubMed:11691822, PubMed:25753423). Associated with microtubule network (PubMed:10644998, PubMed:11691822, PubMed:25753423).
Alternative names
APCL, APC2, Adenomatous polyposis coli protein 2, Adenomatous polyposis coli protein-like, APC-like