EPB41L1
Function
May function to confer stability and plasticity to neuronal membrane via multiple interactions, including the spectrin-actin-based cytoskeleton, integral membrane channels and membrane-associated guanylate kinases.
Involvement in disease
Intellectual developmental disorder, autosomal dominant 11
MRD11
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Highest expression in brain, lower in heart, kidney, pancreas, placenta, lung and skeletal muscle.
Cellular localization
- Cytoplasm
- Cytoskeleton
Alternative names
KIAA0338, EPB41L1, Band 4.1-like protein 1, Erythrocyte membrane protein band 4.1-like 1, Neuronal protein 4.1, 4.1N