CLSTN1

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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