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This protein encoded by this gene belongs to the WD repeat-containing family of proteins, which function in the formation of protein-protein complexes in a variety of biological pathways. This family member is thought to function in craniofacial development, possibly in the fusion of lip and palate. A missense mutation in this gene is associated with Van der Woude syndrome 2. Alternative splicing of this gene results in multiple transcript variants.
Gene Name: | WD repeat domain 65 |
Synonyms: | CFAP57, WD repeat domain 65, VWS2, WDR65 |
Target Sequences: | NM_001167965 NP_001161437.1 Q96MR6 |
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