9jk7
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Structural highlights
DiseaseVANG2_HUMAN Isolated anencephaly;Isolated exencephaly. The disease is caused by variants affecting the gene represented in this entry. FunctionVANG2_HUMAN Involved in the control of early morphogenesis and patterning of both axial midline structures and the development of neural plate. Plays a role in the regulation of planar cell polarity, particularly in the orientation of stereociliary bundles in the cochlea. Required for polarization and movement of myocardializing cells in the outflow tract and seems to act via RHOA signaling to regulate this process. Required for cell surface localization of FZD3 and FZD6 in the inner ear (By similarity).[UniProtKB:Q91ZD4] Contents | ||||||||||||||||||
This page was last modified 09:34, 25 December 2024.