CLDN11

Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity.

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.

Belongs to the claudin family.

• Cell junction
• Tight junction
• Cell membrane
• Multi-pass membrane protein

OSP, OTM, CLDN11, Claudin-11, Oligodendrocyte-specific protein

• entrezGene:5010
• omim:601326
• swissprot:O75508

Proteins

Developmental Biology

21993Da