NUMA1 Chromosome 11
Nuclear mitotic apparatus protein 1
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What This Gene Does
This gene encodes a large protein that forms a structural component of the nuclear matrix. The encoded protein interacts with microtubules and plays a role in the formation and organization of the mitotic spindle during cell division. Chromosomal translocation of this gene with the RARA (retinoic acid receptor, alpha) gene on chromosome 17 have been detected in patients with acute promyelocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2013]
Gene Info
Gene Group
MicroRNA protein coding host genes
Locus Type
gene with protein product
Location
11q13.4
Ensembl
ENSG00000137497
Associated Conditions (1)
Myoepithelial tumor
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS150123720 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200233406 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS755623798 | Health Risk | Pathogenic | Myoepithelial tumor, Myoepithelial tumor |