NIPA1 gene

non imprinted in Prader-Willi/Angelman syndrome 1

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

From NCBI Gene:

This gene encodes a magnesium transporter that associates with early endosomes and the cell surface in a variety of neuronal and epithelial cells. This protein may play a role in nervous system development and maintenance. Multiple transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with autosomal dominant spastic paraplegia 6. [provided by RefSeq, Nov 2008]

From UniProt:

Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Fe(2+), Sr(2+), Ba(2+), Mn(2+) and Co(2+) but to a much less extent than Mg(2+).

From NCBI Gene:

  • Spastic paraplegia 6

From UniProt:

Spastic paraplegia 6, autosomal dominant (SPG6): 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:600363]

Cytogenetic Location: 15q11.2, which is the long (q) arm of chromosome 15 at position 11.2

Molecular Location: base pairs 22,786,225 to 22,829,789 on chromosome 15 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 15q11.2, which is the long (q) arm of chromosome 15 at position 11.2
  • FSP3
  • SPG6