Aliases for SPECC1 Gene
External Ids for SPECC1 Gene
Previous HGNC Symbols for SPECC1 Gene
Previous GeneCards Identifiers for SPECC1 Gene
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]
GeneCards Summary for SPECC1 Gene
SPECC1 (Sperm Antigen With Calponin Homology And Coiled-Coil Domains 1) is a Protein Coding gene. Diseases associated with SPECC1 include Juvenile Myelomonocytic Leukemia and Noonan Syndrome 6. An important paralog of this gene is SPECC1L.