Target intelligence / Profile preview

Down syndrome cell adhesion molecule-like protein 1 (DSCAML1)

Target
DSCAML1
Molecular classification
Cell adhesion molecule, Immunoglobulin superfamily (IgSF) protein, Transmembrane protein, Receptor (by function of mediating cell-cell interactions)
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Overview

Down syndrome cell adhesion molecule-like protein 1 (DSCAML1) is a transmembrane protein belonging to the immunoglobulin superfamily and functions as a cell adhesion molecule primarily in the nervous system. DSCAML1 is structurally characterized by ten Ig-like domains and six fibronectin III domains, enabling homophilic cell-cell adhesion critical for neuronal self-avoidance, proper neuronal network formation, cell spacing, synapse specificity, and developmental programmed cell death. The gene is expressed notably in the brain, including the retina, cerebellum, cerebral cortex, dentate gyrus, and hypothalamus, where it regulates development and function of specific neuronal populations. Variants and deficiencies in DSCAML1 are implicated in neurodevelopmental and neuropsychiatric disorders, and it is linked to defective stress axis regulation as well as some vision disorders. There are currently no approved drugs targeting DSCAML1, and it is mainly considered a potential therapeutic or research target in contexts of neurological and stress-related disorders.

Other names
DSCAML1Cell adhesion molecule DSCAML1DSCAM2KIAA1132Down syndrome cell adhesion molecule 2Down syndrome cell adhesion molecule-like protein 1DSCAM-like 1Downs syndrome cell adhesion molecule like 1
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Mechanism of action

Not applicable: No drugs targeting DSCAML1 have defined mechanisms of action

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Biological functions

Cell-cell adhesion (homophilic interactions)Neuronal self-avoidance (orderly neurite arborization, spacing between cells)Neuronal differentiation and development (especially in retina, hypothalamus, cortex, cerebellum)Promotion of cell death (programmed cell death/PCD) in neuron developmentSynapse specification and maintenance (especially in the retina)Regulation of stress axis development (hypothalamic-pituitary-adrenal axis)Axon growth and branching
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Disease associations

Neurodevelopmental disorders (Jacobsen syndrome, Tourette syndrome, distal trisomy 11q, autism spectrum disorder, epilepsy, cortical abnormality)Retinal diseases/vision disorders (ocular motility disease, ocular motor apraxia)Psychiatric dysfunction/stress axis dysregulationProstate cancer (association)Combined oxidative phosphorylation deficiency 8 (association)

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