CLSTN1
Description
The CLSTN1 (calsyntenin 1) is a protein-coding gene located on chromosome 1.
Calsyntenin-1 is a protein encoded by the CLSTN1 gene in humans. Mutations in this gene have been linked to the pathogenic mechanisms of Alzheimer's disease. Calsyntenin-1 interacts with APBA2 and Amyloid precursor protein.
Calsyntenin-1 is a postsynaptic adhesion molecule that binds to presynaptic neurexins to mediate both excitatory and inhibitory synapse formation. It promotes synapse development by acting as a cell adhesion molecule at the postsynaptic membrane, which associates with neurexin-alpha at the presynaptic membrane. Calsyntenin-1 also functions as a cargo in axonal anterograde transport by acting as a molecular adapter that promotes KLC1 association with vesicles. It forms a complex with APBA2 and APP, which stabilizes APP metabolism and enhances APBA2-mediated suppression of beta-APP40 secretion, due to the retardation of intracellular APP maturation.
CLSTN1 is also known as ALC-ALPHA, CDHR12, CST-1, CSTN1, PIK3CD, XB31alpha, alcalpha1, alcalpha2.
Associated Diseases
- primary familial polycythemia due to EPO receptor mutation
- hemoglobin D disease
- X-linked sideroblastic anemia 1
- hemolytic anemia due to diphosphoglycerate mutase deficiency
- hemoglobin E disease
- monosomy 7 myelodysplasia and leukemia syndrome 1
- erythrocytosis, familial, 3
- erythrocytosis, familial, 6
- overhydrated hereditary stomatocytosis
- microcytic anemia with liver iron overload
- hereditary elliptocytosis
- monosomy 7 myelodysplasia and leukemia syndrome 2
- erythrocytosis, familial, 4
- dehydrated hereditary stomatocytosis
- neutropenia, severe congenital, 1, autosomal dominant
- bone marrow failure syndrome 6
- retinitis pigmentosa and erythrocytic microcytosis
- thrombocytopenia 5
- familial pseudohyperkalemia
