Full name: sperm antigen with calponin homology and coiled-coil domains 1 like

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: CYTSA; GBBB2; OBLFC1; TBHS; TBHS1

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]

Expression: Ubiquitous expression in testis (RPKM 21.3), thyroid (RPKM 13.1) and 25 other tissues

Gene size: 146908bp

Exon count: 19