RTN2 gene

reticulon 2

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

From NCBI Gene:

This gene belongs to the family of reticulon encoding genes. Reticulons are necessary for proper generation of tubular endoplasmic reticulum and likely play a role in intracellular vesicular transport. Alternatively spliced transcript variants encoding different isoforms have been identified. Mutations at this locus have been associated with autosomal dominant spastic paraplegia-12. [provided by RefSeq, Apr 2012]

From NCBI Gene:

  • Spastic paraplegia 12

From UniProt:

Spastic paraplegia 12, autosomal dominant (SPG12): 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. [MIM:604805]

Cytogenetic Location: 19q13.32, which is the long (q) arm of chromosome 19 at position 13.32

Molecular Location: base pairs 45,485,288 to 45,497,055 on chromosome 19 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 19q13.32, which is the long (q) arm of chromosome 19 at position 13.32
  • NSP2
  • NSPL1
  • NSPLI
  • SPG12