NSG1
Description
The NSG1 (neuronal vesicle trafficking associated 1) is a protein-coding gene located on chromosome 4.
NSG1, also known as Neuron-enriched endosomal protein of 21 kDa, is involved in the recycling of receptors in neurons, including AMPAR, APP, and L1CAM. It acts on early endosomes to direct receptors towards recycling pathways. Specifically, NSG1 interacts with GRIP1 to regulate the sorting and recycling of GRIA2, contributing to synaptic transmission and plasticity by affecting AMPA receptor recycling and targeting. NSG1 is essential for the proper sorting of L1CAM to axons by facilitating trafficking from early or recycling endosomes. However, NSG1 can also induce apoptosis by activating CASP3 in response to DNA damage.
NSG1 is also known as D4S234, D4S234E, NEEP21, P21.
Associated Diseases
- neutrophil immunodeficiency syndrome
- Bernard-Soulier syndrome
- thrombocytopenia 2
- X-linked severe congenital neutropenia
- neutropenia, severe congenital, 1, autosomal dominant
- neutropenia, severe congenital, 2, autosomal dominant
- nonimmune chronic idiopathic neutropenia of adults
- transient myeloproliferative syndrome
- myeloperoxidase deficiency
- platelet-type bleeding disorder 10
- platelet-type bleeding disorder 19
