NPTN Chromosome 15
Neuroplastin
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What This Gene Does
This gene encodes a type I transmembrane protein belonging to the Ig superfamily. The protein is believed to be involved in cell-cell interactions or cell-substrate interactions. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2009]
Gene Info
Gene Group
"I-set domain containing|Basigin family "
Locus Type
gene with protein product
Location
15q24.1
Ensembl
ENSG00000156642
Associated Conditions (2)
Developmental disorder
NPTN-related neurodevelopmental disorder
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1449689929 | Health Risk | Conflicting classifications of pathogenicity | Developmental disorder, NPTN-related neurodevelopmental disorder, Developmental disorder |