PPFIBP1
Domain
The N-terminal coiled coil regions mediate homodimerization preferentially and heterodimerization type beta/beta. The C-terminal, non-coiled coil regions mediate heterodimerization type beta/alpha and interaction with S100A4.
Function
May regulate the disassembly of focal adhesions. Did not bind receptor-like tyrosine phosphatases type 2A.
Involvement in disease
Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities
NEDSMBA
An autosomal recessive disorder characterized by global developmental delay, severe to profound intellectual disability, progressive microcephaly, refractory early-onset epilepsy, white matter abnormalities, and periventricular calcifications.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the liprin family. Liprin-beta subfamily.
Tissue Specificity
Widely expressed. Absent in liver.
Cellular localization
- Cytoplasm
- Cell cortex
Alternative names
KIAA1230, PPFIBP1, Liprin-beta-1, Protein tyrosine phosphatase receptor type f polypeptide-interacting protein-binding protein 1, hSGT2, PTPRF-interacting protein-binding protein 1