SPECC1


sperm antigen with calponin homology and coiled-coil domains 1


ENTREZID: 92521 | Type: Protein Coding | Map: 17p11.2

OMIM: 610733 | 182530 | 135300


Summary Entrez
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]