MAP1A Chromosome 15
Microtubule associated protein 1A
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What This Gene Does
This gene encodes a protein that belongs to the microtubule-associated protein family. The proteins of this family are thought to be involved in microtubule assembly, which is an essential step in neurogenesis. The product of this gene is a precursor polypeptide that presumably undergoes proteolytic processing to generate the final MAP1A heavy chain and LC2 light chain. Expression of this gene is almost exclusively in the brain. Studies of the rat microtubule-associated protein 1A gene suggested a role in early events of spinal cord development. [provided by RefSeq, Jul 2008]
Associated Conditions (1)
Neurodevelopmental disorder
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS765436929 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2140209334 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |