CLSTN3
Description
The CLSTN3 (calsyntenin 3) is a protein-coding gene located on chromosome 12.
Calsyntenin-3, also known as Alcadein-beta, is a postsynaptic adhesion molecule that binds to presynaptic neurexins to mediate both excitatory and inhibitory synapse formation (PubMed:25352602). It promotes synapse development by acting as a cell adhesion molecule at the postsynaptic membrane, which associates with both neurexin-alpha and neurexin-beta proteins at the presynaptic membrane (PubMed:25352602). Calsyntenin-3 regulates the balance between excitatory and inhibitory synapses by inhibiting formation of excitatory parallel-fiber synapses and promoting formation of inhibitory synapses in the same neuron (By similarity). It may also be involved in ascorbate (vitamin C) uptake via its interaction with SLC23A2/SVCT2 (PubMed:34673103). Complex formation with APBA2 and APP stabilizes APP metabolism and enhances APBA2-mediated suppression of beta-APP40 secretion, due to the retardation of intracellular APP maturation (Probable) (PubMed:12972431).
CLSTN3 is also known as CDHR14, CSTN3, alcbeta.
Associated Diseases
- spinocerebellar ataxia type 20
- X-linked dystonia-parkinsonism
- infantile-onset generalized dyskinesia with orofacial involvement
- urocanic aciduria
- dystonia 23
- spastic ataxia 2
- spinocerebellar ataxia type 15/16
- torsion dystonia 2
- spinocerebellar ataxia type 37
- autosomal recessive spastic paraplegia type 70
