disease:May be partly responsible for CATCH22 syndromes. This denomination includes developmental defects which associate cardiac defect, abnormal facies, thymic hypoplasia, cleft palate, hypocalcemia, and chromosome 22 deletions.,function:May play a role in the signal transduction pathway mediated by multiple Wnt genes.,PTM:Ubiquitinated, leading to its subsequent degradation by the ubiquitin-proteasome. The interaction with INVS is required for ubiquitination.,similarity:Belongs to the DSH family.,similarity:Contains 1 DEP domain.,similarity:Contains 1 DIX domain.,similarity:Contains 1 PDZ (DHR) domain.,subunit:Interacts with CXXC4. Interacts (via PDZ domain) with NXN (By similarity). Interacts with BRD7 and INVS. Interacts through its PDZ domain with the C-terminal regions of VANGL1, VANGL2 and CCDC88C/DAPLE.,tissue specificity:Expressed in the thymus and, at high levels, in the heart.,
Cell membrane ; Peripheral membrane protein ; Cytoplasmic side . Cytoplasm, cytosol . Cytoplasmic vesicle . Localizes at the cell membrane upon interaction with frizzled family members. .
Brain,Eye,Peripheral Nervous System,Sympathetic ganglion,Testis,