NT5C2 gene

5'-nucleotidase, cytosolic II

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a hydrolase that serves as an important role in cellular purine metabolism by acting primarily on inosine 5'-monophosphate and other purine nucleotides. [provided by RefSeq, Oct 2011]

From UniProt:

May have a critical role in the maintenance of a constant composition of intracellular purine/pyrimidine nucleotides in cooperation with other nucleotidases. Preferentially hydrolyzes inosine 5'-monophosphate (IMP) and other purine nucleotides.

From NCBI Gene:

  • Spastic paraplegia 45, autosomal recessive

From UniProt:

Spastic paraplegia 45, autosomal recessive (SPG45): A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Some SPG45 patients manifest mental retardation, contractures and learning disability. [MIM:613162]

Cytogenetic Location: 10q24.32, which is the long (q) arm of chromosome 10 at position 24.32

Molecular Location: base pairs 103,088,017 to 103,193,306 on chromosome 10 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 10q24.32, which is the long (q) arm of chromosome 10 at position 24.32
  • cN-II
  • GMP
  • NT5B
  • PNT5
  • SPG45
  • SPG65