rs146907080
This variant is located in the SPECC1L gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶MCS9.7 enhancer activity is highly, but not completely, associated with expression of Irf6 and p63FunctionalWalid D. Fakhouri et al.(2012)· Developmental Dynamics
This dissertation characterizes SPECC1L function in palatogenesis using mouse models and identifies SPECC1L variants in human patients with orofacial clefts. The authors demonstrate that SPECC1L is required for palate elevation and that the T397P point mutation identified in Opitz G/BBB syndrome patients results in completely penetrant cleft palate with omphalocele phenotypes in mouse embryos. SPECC1L acts downstream of IRF6 in the palatal epithelium and is required for mesenchymal cell migration, with defects rescuable by PI3K-AKT pathway activation.
About SPECC1L
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]
View all SPECC1L variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…