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 Facial Clefting, Oblique, 1 and Opitz Gbbb Syndrome, Type Ii. Gene Ontology (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.