Aliases for SPECC1L Gene
External Ids for SPECC1L Gene
Previous HGNC Symbols for SPECC1L Gene
Previous GeneCards Identifiers for SPECC1L Gene
This gene encodes a coiled-coil domain containing protein. The encoded protein may play a critical role in actin-cytoskeletal reorganization during facial morphogenesis. Mutations in this gene are a cause of oblique facial clefting-1. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. A read-through transcript composed of SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1-like) and the downstream ADORA2A (adenosine A2a receptor) gene sequence has been identified, but it is thought to be non-coding. [provided by RefSeq, Jun 2013]
GeneCards Summary for SPECC1L Gene
SPECC1L (Sperm Antigen With Calponin Homology And Coiled-Coil Domains 1 Like) is a Protein Coding gene. Diseases associated with SPECC1L include Opitz Gbbb Syndrome, Type Ii and Facial Clefting, Oblique, 1. GO annotations related to this gene include protein dimerization activity. An important paralog of this gene is SPECC1L-ADORA2A.
UniProtKB/Swiss-Prot for SPECC1L Gene
Involved in cytokinesis and spindle organization. May play a role in actin cytoskeleton organization and microtubule stabilization and hence required for proper cell adhesion and migration.