Primary Identifier | MGI:1921642 | Organism | mouse, laboratory |
Chromosome | 10 | NCBI Gene Number | 74392 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables beta-catenin binding activity. Acts upstream of or within several processes, including anterior neural tube closure; negative regulation of protein depolymerization; and positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction. Located in cell-cell junction; cytoplasm; and cytoskeleton. Part of filamentous actin. Is expressed in 1st branchial arch maxillary component; branchial arch; eye; fronto-nasal process; and limb. Used to study Teebi hypertelorism syndrome 1 and cleft palate. Human ortholog(s) of this gene implicated in Teebi hypertelorism syndrome 1 and oblique facial clefting 1. Orthologous to human SPECC1L (sperm antigen with calponin homology and coiled-coil domains 1 like). PHENOTYPE: Homozygous knockout affects cranial neural crest cell migration, which causes neural tube closure defects and leads to embryonic lethality. [provided by MGI curators] |