SHISA7
Description
The SHISA7 (shisa family member 7) is a protein-coding gene located on chromosome 19.
SHISA7 is a transmembrane protein that plays a critical role in regulating the function of GABA(A) receptors, which are responsible for inhibitory neurotransmission in the brain. It influences the trafficking, deactivation kinetics, and pharmacology of GABA(A) receptors, ensuring fast and efficient inhibitory signaling. SHISA7 enhances the effects of benzodiazepines, a class of drugs that target GABA(A) receptors. Additionally, SHISA7 may also affect the kinetics of AMPA receptors, which mediate excitatory neurotransmission. This involvement in both inhibitory and excitatory pathways suggests a complex role for SHISA7 in shaping neuronal communication and plasticity. Specifically, SHISA7 may regulate the induction and maintenance of long-term potentiation, a key process for learning and memory formation.
SHISA7 is also known as CKAMP59.
Associated Diseases
- Huntington disease-like syndrome due to C9ORF72 expansions
- spinocerebellar ataxia type 12
- microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum
- atypical pantothenate kinase-associated neurodegeneration
- X-linked spinocerebellar ataxia type 4
- Brunner syndrome
- neuroferritinopathy
- corticobasal syndrome
- spinocerebellar ataxia type 20
- epilepsy, progressive myoclonic, 12
- dystonia 12
- dystonia 16
- atypical progressive supranuclear palsy syndrome
- Parkinson disease
- bilateral striopallidodentate calcinosis
- Gerstmann-Straussler-Scheinker syndrome
- spinocerebellar ataxia type 27
