NPTX1 Chromosome 17
Neuronal pentraxin 1
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What This Gene Does
NPTX1 is a member of the neuronal pentraxin gene family. Neuronal pentraxin 1 is similar to the rat NP1 gene which encodes a binding protein for the snake venom toxin taipoxin. Human NPTX1 mRNA is exclusively localized to the nervous system. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Long pentraxins
Locus Type
gene with protein product
Location
17q25.3
Ensembl
ENSG00000171246
Associated Conditions (2)
Spinocerebellar ataxia 50
Inborn genetic diseases
Key Variants
RS2509777083
Likely pathogenic
Spinocerebellar ataxia 50, Spinocerebellar ataxia 50
Health Risk
RS2509779738
Likely pathogenic
Spinocerebellar ataxia 50, Spinocerebellar ataxia 50
Health Risk
RS2509780141
Likely pathogenic
Spinocerebellar ataxia 50, Spinocerebellar ataxia 50
Health Risk
RS2509777500
Pathogenic
Spinocerebellar ataxia 50, Spinocerebellar ataxia 50
Health Risk
RS1466750124
Pathogenic/Likely pathogenic
Spinocerebellar ataxia 50, Inborn genetic diseases, Spinocerebellar ataxia 50
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2509777083 | Health Risk | Likely pathogenic | Spinocerebellar ataxia 50, Spinocerebellar ataxia 50 |
| RS2509779738 | Health Risk | Likely pathogenic | Spinocerebellar ataxia 50, Spinocerebellar ataxia 50 |
| RS2509780141 | Health Risk | Likely pathogenic | Spinocerebellar ataxia 50, Spinocerebellar ataxia 50 |
| RS2509777500 | Health Risk | Pathogenic | Spinocerebellar ataxia 50, Spinocerebellar ataxia 50 |
| RS1466750124 | Health Risk | Pathogenic/Likely pathogenic | Spinocerebellar ataxia 50, Inborn genetic diseases, Spinocerebellar ataxia 50 |