This website provides information on patients with mutations in the NT5C2 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the NT5C2 gene is a Hereditary spastic paraplegia (HSP). HSPs are a rare heterogeneous group of neurodegenerative diseases, with upper and lower limb spasticity motor neuron disintegration leading to paraplegias.

5-PRIME-NUCLEOTIDASE, CYTOSOLIC II (NT5C2). NT5C2 encodes a cytosolic 5'-nucleotidase (cN-II) that is essential for regulating intracellular nucleotide levels. Mutations in the NT5C2 gene have been identified as a major cause of resistance to thiopurine chemotherapy in relapsed acute lymphoblastic leukemia (ALL) patients, as the mutant enzyme dephosphorylates and inactivates thiopurine drugs before they can exert their cytotoxic effects. Research also links variations in NT5C2 to psychiatric and neurological conditions, though the underlying mechanisms are not fully understood.

Not all individuals with a mutation in the NT5C2 gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the NT5C2 gene.

Prof. Muhammad Imran Naseer, PhD, Institute of Genomic Medicine Sciences, King Abdulaziz University, Jeddah, Saudi Arabia, mimrannaseer@yahoo.com; minaseer@kau.edu.sa