NCDN
Function
Probably involved in signal transduction in the nervous system, via increasing cell surface localization of GRM5/mGluR5 and positively regulating its signaling (PubMed:33711248). Required for the spatial learning process. Acts as a negative regulator of Ca(2+)-calmodulin-dependent protein kinase 2 (CaMK2) phosphorylation. May play a role in modulating melanin-concentrating hormone-mediated functions via its interaction with MCHR1 that interferes with G protein-coupled signal transduction. May be involved in bone metabolism. May also be involved in neurite outgrowth (Probable).
Involvement in disease
Neurodevelopmental disorder with infantile epileptic spasms
NEDIES
An autosomal dominant neurodevelopmental disorder characterized by onset of severe and frequent epileptic spasms within the first year of life. Affected individuals have global developmental delay with delayed walking and poor or absent speech. More variable features may include poor overall growth, high-arched palate, and delayed myelination on brain imaging.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Palmitoylated. Palmitoylation by ZDHHC1, ZDHHC3 and ZDHHC11 regulates the association of NCDN with endosome membranes. May also be palmitoylated by ZDHHC7.
Sequence Similarities
Belongs to the neurochondrin family.
Tissue Specificity
Abundantly expressed in whole adult brain and in all individual brain regions examined, including spinal cord. Weakly expressed in ovary, testis, fetal brain and small intestine.
Cellular localization
- Cytoplasm
- Cytosol
- Endosome membrane
- Lipid-anchor
- Cell projection
- Dendrite
- Postsynapse
- Localizes to somatic regions of neurons. Localization to endosome membrane requires palmitoylation.
Alternative names
KIAA0607, NCDN, Neurochondrin