SPECC1 Chromosome 17
Sperm antigen with calponin homology and coiled-coil domains 1
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What This Gene Does
The protein encoded by this gene belongs to the cytospin-A family. It is localized in the nucleus, and highly expressed in testis and some cancer cell lines. A chromosomal translocation involving this gene and platelet-derived growth factor receptor, beta gene (PDGFRB) may be a cause of juvenile myelomonocytic leukemia. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011]
Associated Conditions (1)
Myoepithelial tumor
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2544718723 | Health Risk | Likely pathogenic | Myoepithelial tumor, Myoepithelial tumor |