Calsyntenin 1 (CLSTN1) is a type I transmembrane protein enriched in excitatory synapses. It interacts with the amyloid precursor protein (APP) and may regulate amyloid-beta production. CLSTN1 mediates synaptic plasticity by interacting with the postsynaptic density and is cleaved by gamma-secretase, releasing an intracellular domain that may regulate gene expression. This page covers the gene's normal function, disease associations, expression patterns, and key research findings relevant to neurodegeneration. It interacts with the amyloid precursor protein (APP) and may regulate amyloid-beta production. CLSTN1 mediates synaptic plasticity by interacting with the postsynaptic density and is cleaved by gamma-secretase, releasing a intracellular domain that may regulate gene expression. This page covers the gene's normal function, disease associations, expression patterns, and key research findings relevant to neurodegeneration.
CLSTN1 (Calsyntenin 1) is a neuronal transmembrane protein that functions as a synaptic adhesion molecule. It is involved in synaptic plasticity, learning, and memory, and has been implicated in Alzheimer disease pathogenesis. [1]
| Attribute | Value | [2]
|-----------|-------| [3]
| Symbol | CLSTN1 | [4]
| Full Name | Calsyntenin 1 | [5]
| Chromosomal Location | 1p36.21 | [6]
| NCBI Gene ID | 64085 | [7]
| OMIM | 611295 | [8]
| Ensembl ID | ENSG00000171603 | [9]
| UniProt | Q9BZZ5 | [10]
CLSTN1: Calsyntenin 1 is a type I transmembrane protein enriched in excitatory synapses. It interacts with the amyloid precursor protein (APP) and may regulate amyloid-beta production. CLSTN1 mediates synaptic plasticity by interacting with the postsynaptic density and is cleaved by gamma-secretase, releasing a intracellular domain that may regulate gene expression. [11]
LGI1: Leucine-rich glioma inactivated 1 is a secreted protein that binds to ADAM22 and ADAM23 receptors on postsynaptic neurons. It regulates AMPA receptor trafficking and synaptic transmission. LGI1 is essential for normal brain development and synaptic function.
NRCAM: Neuronal cell adhesion molecule is an immunoglobulin superfamily member that mediates cell-cell adhesion through homophilic and heterophilic interactions. It plays critical roles in axonal guidance, synapse formation, and myelination. NRCAM is expressed in developing and mature neurons.
ATP1A3: The Na+/K+ ATPase alpha-3 subunit is expressed primarily in neurons and maintains the electrochemical gradient essential for neuronal excitability. It uses ATP to transport 3 Na+ out and 2 K+ in, maintaining the resting membrane potential. This subunit is critical for fast-spiking neurons.
KCNQ2: KCNQ2 forms voltage-gated potassium channels (Kv7.2) that generate the M-current, a slowly activating and deactivating K+ current that dampens neuronal excitability. Channels composed of KCNQ2/KCNQ3 subunits are critical for regulating action potential firing, particularly in hippocampal and cortical neurons.
Morante-Redolat et al. LGI1 mutations cause ADLTE (2002). 2002. ↩︎
Sakurai et al. NRCAM in autism (2008). 2008. ↩︎
de Carvalho Aguiar et al. ATP1A3 in RDP (2004). 2004. ↩︎
Biervert et al. KCNQ2 mutations cause BFNS (1998). 1998. ↩︎
Hintsch et al. CLSTN1 expression in brain (2002). 2002. ↩︎
Kegel et al. LGI1 expression and function (2003). 2003. ↩︎
H话说 et al. NRCAM in neural development (2000). 2000. ↩︎
Bottger et al. ATP1A3 expression pattern (2002). 2002. ↩︎
Wang et al. KCNQ2 in hippocampus (1998). 1998. ↩︎
Calame et al. ATP1A3 therapeutics (2017). 2017. ↩︎
Maljevic et al. KCNQ2 channelopathy (2011). 2011. ↩︎