INA Chromosome 10
Internexin neuronal intermediate filament protein alpha
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What This Gene Does
Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene is a member of the intermediate filament family and is involved in the morphogenesis of neurons. [provided by RefSeq, Jun 2009]
Gene Info
Gene Group
Intermediate filaments Type IV
Locus Type
gene with protein product
Location
10q24.33
Ensembl
ENSG00000148798
Associated Conditions (1)
Abnormal brain morphology
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS920363358 | Health Risk | Likely pathogenic | Abnormal brain morphology, Abnormal brain morphology |