Mouse CDO is a 190 kDa member of the Ig/FN-type III repeat subfamily of transmembrane proteins. The extracellular region contains five Ig-like domains and three FN-III modules. The molecule forms cis-complexes with itself and the related molecule termed BOC. CDO and BOC have been implicated in the Hedgehog signaling pathway.
CDO has a role in human forebrain development and Holoprosencephaly (HPE), a common defect of human forebrain development and is associate with HPE is via haploinsufficiency for genes encoding Sonic Hedgehog (SHH) pathway components.
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