NIPA1 Chromosome 15
NIPA magnesium transporter 1
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What This Gene Does
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]
Gene Info
Gene Group
Solute carrier family 57, NIPA-like magnesium transporters
Locus Type
gene with protein product
Location
15q11.2
Ensembl
ENSG00000170113
Associated Conditions (9)
Hereditary spastic paraplegia
Hereditary spastic paraplegia 6
NIPA1-related disorder
Malignant lymphoma
large B-cell
diffuse
Inborn genetic diseases
Spastic paraplegia
Amyotrophic lateral sclerosis
Key Variants
RS1008907564
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Hereditary spastic paraplegia 6, Hereditary spastic paraplegia
Health Risk
RS1314889289
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 6, Hereditary spastic paraplegia 6
Health Risk
RS1361753522
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 6, Hereditary spastic paraplegia 6
Health Risk
RS139372534
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 6, Hereditary spastic paraplegia, NIPA1-related disorder
Health Risk
RS199718530
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 6, NIPA1-related disorder, Hereditary spastic paraplegia 6
Health Risk
RS200282898
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 6, Hereditary spastic paraplegia, Hereditary spastic paraplegia 6
Health Risk
RS373273269
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 6, Malignant lymphoma, large B-cell
Health Risk
RS548931873
Conflicting classifications of pathogenicity
Inborn genetic diseases, Hereditary spastic paraplegia 6, Inborn genetic diseases
Health Risk
RS569739849
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 6, Hereditary spastic paraplegia 6
Health Risk
RS746614226
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 6, Hereditary spastic paraplegia 6
Health Risk
RS749414711
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 6, Hereditary spastic paraplegia, Hereditary spastic paraplegia 6
Health Risk
RS751391752
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 6, Hereditary spastic paraplegia 6
Health Risk
All Variants (20)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1008907564 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia, Hereditary spastic paraplegia 6, Hereditary spastic paraplegia |
| RS1314889289 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 6, Hereditary spastic paraplegia 6 |
| RS1361753522 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 6, Hereditary spastic paraplegia 6 |
| RS139372534 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 6, Hereditary spastic paraplegia, NIPA1-related disorder |
| RS199718530 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 6, NIPA1-related disorder, Hereditary spastic paraplegia 6 |
| RS200282898 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 6, Hereditary spastic paraplegia, Hereditary spastic paraplegia 6 |
| RS373273269 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 6, Malignant lymphoma, large B-cell |
| RS548931873 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Hereditary spastic paraplegia 6, Inborn genetic diseases |
| RS569739849 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 6, Hereditary spastic paraplegia 6 |
| RS746614226 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 6, Hereditary spastic paraplegia 6 |
| RS749414711 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 6, Hereditary spastic paraplegia, Hereditary spastic paraplegia 6 |
| RS751391752 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 6, Hereditary spastic paraplegia 6 |
| RS758551462 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia, Hereditary spastic paraplegia 6, NIPA1-related disorder |
| RS763295984 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 6, Hereditary spastic paraplegia 6 |
| RS778472114 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 6, Hereditary spastic paraplegia, Hereditary spastic paraplegia 6 |
| RS944860201 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 6, Inborn genetic diseases, Hereditary spastic paraplegia 6 |
| RS104894490 | Health Risk | Pathogenic | Hereditary spastic paraplegia 6, Hereditary spastic paraplegia 6, Hereditary spastic paraplegia |
| RS104894496 | Health Risk | Pathogenic | Hereditary spastic paraplegia 6, Hereditary spastic paraplegia 6 |
| RS1895598333 | Health Risk | Pathogenic | Hereditary spastic paraplegia 6, Hereditary spastic paraplegia 6 |
| RS531550505 | Health Risk | risk factor | Hereditary spastic paraplegia 6, Hereditary spastic paraplegia, Hereditary spastic paraplegia 6 |