NIPA1
Description
The NIPA1 (NIPA magnesium transporter 1) is a protein-coding gene located on chromosome 15.
The NIPA1 gene encodes a protein that may function as a receptor or transporter molecule, possibly as a magnesium transporter. This protein is thought to be involved in nervous system development and maintenance. Mutations in the NIPA1 gene have been linked to the genetic disorder autosomal dominant spastic paraplegia 6.
NIPA1 is also known as FSP3, SLC57A1, SPG6.
Associated Diseases
- Autosomal dominant spastic paraplegia type 6
- Spastic paraplegia 6, autosomal dominant
- 15q11.2 microdeletion syndrome
