FRMD4A
Function
Scaffolding protein that regulates epithelial cell polarity by connecting ARF6 activation with the PAR3 complex (By similarity). Plays a redundant role with FRMD4B in epithelial polarization (By similarity). May regulate MAPT secretion by activating ARF6-signaling (PubMed:27044754).
Involvement in disease
Agenesis of the corpus callosum, with facial anomalies and cerebellar ataxia
CCAFCA
An autosomal recessive intellectual disability syndrome characterized by congenital microcephaly, low anterior hairline, bitemporal narrowing, low-set protruding ears, strabismus and tented thick eyebrows with sparse hair in their medial segment.
None
The disease is caused by variants affecting the gene represented in this entry.
Cellular localization
- Cytoplasm
- Cytoskeleton
- Cell junction
- Adherens junction
- Cell junction
- Tight junction
- Colocalized with CYTH1 at adherens junction and tight junction. Colocalized with PARD3 during the process of epithelial polarization.
Alternative names
FRMD4, KIAA1294, FRMD4A, FERM domain-containing protein 4A