Gene: NIPA1

Alternate names for this Gene: FSP3|SLC57A1|SPG6

Gene Summary: 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.

Gene is located in Chromosome: 15

Location in Chromosome : 15q11.2

Description of this Gene: NIPA magnesium transporter 1

Type of Gene: protein-coding

rs104894490 in NIPA1 gene and SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder) PMID 15643603 2005 Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families.

PMID 14508710 2003 NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).

PMID 23850684 2013 A diagnostic gene chip for hereditary spastic paraplegias.

PMID 17928003 2008 Clinical and genetic study of SPG6 mutation in a Chinese family with hereditary spastic paraplegia.

rs104894490 in NIPA1 gene and Spastic Paraplegia, Hereditary PMID 28832565 2017 Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.