SERPINI1(redirected from OTTHUMP00000212948)
SERPINI1A gene on chromosome 3q26.1 that encodes a member of the serpin superfamily of serine proteinase inhibitors that inhibits tissue-type plasminogen activator. It is secreted by axons in the brain and thought to play a role in regulating axonal growth and the development of synaptic plasticity or the reorganisation of synaptic connections. SERPINI1 may protect neurons from cell damage by tissue-type plasminogen activator.
SERPINI1 mutations cause familial encephalopathy with neuroserpin inclusion bodies (FENIB), an autosomal dominant form of familial encephalopathy and epilepsy.