CEP112 Chromosome 17
Centrosomal protein 112
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What This Gene Does
This gene encodes a coiled-coil domain containing protein that belongs to the cell division control protein 42 effector protein family. In neurons, it localizes to the cytoplasm of dendrites and is also enriched in the nucleus where it interacts with the RNA polymerase III transcriptional repressor Maf1 to regulate gamma-aminobutyric acid A receptor surface expression. In addition, the protein has been identified as a component of the human centrosome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
Associated Conditions (1)
Spermatogenic failure 44
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS143892062 | Health Risk | Pathogenic | Spermatogenic failure 44, Spermatogenic failure 44 |
| RS780421901 | Health Risk | Pathogenic | Spermatogenic failure 44, Spermatogenic failure 44 |