CLDN11
Function
Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.
Involvement in disease
Leukodystrophy, hypomyelinating, 22
HLD22
An autosomal dominant disorder characterized by global developmental delay, mildly impaired intellectual development, motor impairment, limb spasticity, dysarthria, and eye abnormalities including hypermetropia. Brain imaging shows hypomyelinating leukodystrophy.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the claudin family.
Cellular localization
- Cell junction
- Tight junction
- Cell membrane
- Multi-pass membrane protein
Alternative names
OSP, OTM, CLDN11, Claudin-11, Oligodendrocyte-specific protein