KNSTRN Chromosome 15
Kinetochore localized astrin (SPAG5) binding protein
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What This Gene Does
Enables microtubule plus-end binding activity and protein homodimerization activity. Involved in several processes, including cellular response to epidermal growth factor stimulus; mitotic sister chromatid segregation; and regulation of attachment of spindle microtubules to kinetochore. Located in several cellular components, including kinetochore; microtubule cytoskeleton; and ruffle. Implicated in actinic keratosis and skin squamous cell carcinoma. [provided by Alliance of Genome Resources, Jul 2025]
Associated Conditions (1)
Combined immunodeficiency with faciooculoskeletal anomalies
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS61739399 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS779438003 | Health Risk | Pathogenic | Combined immunodeficiency with faciooculoskeletal anomalies, Combined immunodeficiency with faciooculoskeletal anomalies |