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SPECC1L encodes a coiled-coil domain containing protein. Additionally we are shipping SPECC1L Antibodies (38) and and many more products for this protein.
two unrelated families with a Teebi hypertelorism-like syndrome and Teebi hypertelorism phenotype who have missense mutations in Sperm Antigen With Calponin Homology And Coiled-Coil Domains (SPECC1L), are reported.
SPECC1L mutations can cause syndromic forms of facial clefting including some cases of autosomal dominant Opitz G/BBB (show ALMS1 ELISA Kits) syndrome.
The authors confirm the role of SPECC1L in orofacial cleft pathogenesis in the first animal model of Tessier cleft, providing morphogenetic insight into the mechanisms of normal craniofacial development and oblique facial cleft pathogenesis
SPECC1L functions in actin-cytoskeleton reorganization and is required for proper facial morphogenesis.
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.
, cytokinesis and spindle organization A
, renal carcinoma antigen NY-REN-22
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