CLSTN3 Chromosome 12

Calsyntenin 3
1 variant 1 Health Risk

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What This Gene Does
Enables cell-cell adhesion mediator activity and neurexin family protein binding activity. Involved in L-ascorbic acid metabolic process and regulation of synapse assembly. Predicted to be located in several cellular components, including Golgi membrane; dendrite; and postsynaptic density. Predicted to be part of protein-containing complex. Predicted to be active in several cellular components, including GABA-ergic synapse; lipid droplet; and postsynaptic density membrane. [provided by Alliance of Genome Resources, Apr 2025]
Gene Info
Gene Group
Cadherin related
Locus Type
gene with protein product
Location
12p13.31
Ensembl
ENSG00000139182
Associated Conditions (1)
Autism spectrum disorder
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS1939401816 Health Risk association Autism spectrum disorder, Autism spectrum disorder
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