NIPA1 encodes NIPA magnesium transporter 1 (329 aa). Acts as a Mg(2+) transporter. Can also transport other divalent cations such as Fe(2+), Sr(2+), Ba(2+), Zn(2+) and Co(2+) but to a much less extent than Mg(2+) Highest expression in Brain Spinal cord cervical c-1 (66.2 TPM) and Brain Substantia nigra (32.7 TPM).

Hereditary spastic paraplegia 6 is associated with mutations in the NIPA1 gene on chromosome 15.

The NIPA1 protein participates in NIPAs transport Mg2+ from extracellular region to cytosol pathway.

NIPA1 is classified as a druggable target (Transporter category) with score 0.0.

Genetic testing for NIPA1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hereditary spastic paraplegia 6 has been reported in the published literature.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for hereditary spastic paraplegia 6.

67 publications have been identified in PubMed for hereditary spastic paraplegia 6. Research spans Basic Science / Preclinical (28%), Case Report / Case Series (23%), and Epidemiology / Natural History (20%).

Recent Publications

• Estiar MA (2026). [PMID: 41877227](https://pubmed.ncbi.nlm.nih.gov/41877227/). *BMC Med*. [Basic Science / Preclinical]

• Stanton AN (2026). [PMID: 41961756](https://pubmed.ncbi.nlm.nih.gov/41961756/). *Pediatr Neurosurg*. [Clinical Trial Publication]

• Mohan N (2026). [PMID: 41739645](https://pubmed.ncbi.nlm.nih.gov/41739645/). *Cell Rep*. [Clinical Trial Publication]

• Falcone GMI (2026). [PMID: 41586951](https://pubmed.ncbi.nlm.nih.gov/41586951/). *Neurol Sci*. [Epidemiology / Natural History]

• Sobanska A (2026). [PMID: 41507865](https://pubmed.ncbi.nlm.nih.gov/41507865/). *BMC Neurol*. [Epidemiology / Natural History]

• Holla VV (2026). [PMID: 41798181](https://pubmed.ncbi.nlm.nih.gov/41798181/). *Tremor Other Hyperkinet Mov (N Y)*. [Review / Meta-Analysis]

• Jang MA (2026). [PMID: 42225730](https://pubmed.ncbi.nlm.nih.gov/42225730/). *Sci Rep*. [Epidemiology / Natural History]

• Koutsis G (2026). [PMID: 41277402](https://pubmed.ncbi.nlm.nih.gov/41277402/). *Clin Genet*. [Basic Science / Preclinical]

• Zhang K (2026). [PMID: 42091194](https://pubmed.ncbi.nlm.nih.gov/42091194/). *Zhonghua Yi Xue Yi Chuan Xue Za Zhi*. [Case Report / Case Series]

• Chiou SY (2026). [PMID: 41593782](https://pubmed.ncbi.nlm.nih.gov/41593782/). *BMC Sports Sci Med Rehabil*. [Clinical Trial Publication]