NPTN

Description

The NPTN (neuroplastin) is a protein-coding gene located on chromosome 15.

Neuroplastin is a protein encoded by the NPTN gene in humans. It is a type I transmembrane protein belonging to the Ig superfamily, likely involved in cell-cell or cell-substrate interactions. The alpha and beta transcripts show distinct localization within the brain.

Neuroplastin is involved in long-term potentiation (LTP) at hippocampal excitatory synapses by activating p38MAPK. It may also regulate neurite outgrowth by activating the FGFR1 signaling pathway and contribute to synaptic plasticity. It acts as a chaperone for ATP2B1, stabilizing it and enhancing its ATPase activity. Neuroplastin promotes the localization of XKR8 at the cell membrane.

NPTN is also known as GP55, GP65, SDFR1, SDR1, np55, np65.

Associated Diseases

• atypical pantothenate kinase-associated neurodegeneration
• spinocerebellar ataxia type 18
• neuroferritinopathy
• X-linked intellectual disability-psychosis-macroorchidism syndrome
• late-infantile/juvenile Krabbe disease
• hypermanganesemia with dystonia 2
• lower motor neuron syndrome with late-adult onset
• severe neurodegenerative syndrome with lipodystrophy
• dystonia 12
• pantothenate kinase-associated neurodegeneration
• dopa-responsive dystonia due to sepiapterin reductase deficiency