CADPS2
Protein-coding gene in humans From Wikipedia, the free encyclopedia
Calcium-dependent secretion activator 2 is a protein that in humans is encoded by the CADPS2 gene.[5]
Function
This gene encodes a member of the calcium-dependent activator of secretion (CAPS) protein family, which are calcium-binding proteins that regulate the exocytosis of synaptic and dense-core vesicles in neurons and neuroendocrine cells.[5]
Interactions
This gene interacts with brain-derived neurotrophic factor.
Clinical significance
Cadps2 has been linked to autism[6] and is in the 7q autism susceptibility locus (AUTS1). However, the finding of aberrant CADPS2 splicing was not found to be significant in another study.[7]
A knockout mouse model was found to have autistic-like characteristics.[6]
CADPS2 has been linked to human and mouse brain structure in two large genomic studies.[8][9]
References
External links
Further reading
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