NCDN

This gene encodes a leucine-rich cytoplasmic protein, which is highly similar to a mouse protein that negatively regulates Ca/calmodulin-dependent protein kinase II phosphorylation and may be essential for spatial learning processes. Several alternatively spliced transcript variants of this gene have been described. [provided by RefSeq]

Full Name

neurochondrin

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 Ca2+-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).

Biological Process

Bone resorption Source: Ensembl
Neuron projection development Source: UniProtKB
Regulation of neuronal synaptic plasticity Source: GO_Central

Cellular Location

Endosome
Endosome membrane
cytosol
Other locations
dendrite
postsynapse
Note: Localizes to somatic regions of neurons. Localization to endosome membrane requires palmitoylation.

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.

PTM

Palmitoylated. Palmitoylation by ZDHHC1, ZDHHC3 and ZDHHC11 regulates the association of NCDN with endosome membranes. May also be palmitoylated by ZDHHC7.