ESAM
Function
Can mediate aggregation most likely through a homophilic molecular interaction.
Involvement in disease
Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity
NEDIHSS
An autosomal recessive disease characterized by prenatal or neonatal onset of intracranial hemorrhage, ventriculomegaly and cerebral calcifications. Affected individuals have profound global developmental delay, intellectual disability, epilepsy, absent or severely delayed speech, and varying degrees of spasticity. Death in utero or in early childhood may occur.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Highly expressed in endothelial cells.
Cellular localization
- Cell junction
- Adherens junction
- Cell junction
- Tight junction
- Cell membrane
- Single-pass type I membrane protein
Alternative names
UNQ220/PRO246, ESAM, Endothelial cell-selective adhesion molecule