Gene Symbol | SPECC1L |
Entrez Gene ID | 23384 |
Full Name | sperm antigen with calponin homology and coiled-coil domains 1 like |
Synonyms | CYTSA,GBBB2,OBLFC1 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | ?Facial clefting, oblique, 1, 600251 (3); Opitz GBBB syndrome, type II, 145410 (3) |