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The protein encoded by C5ORF42 has putative coiled-coil domains and may be a transmembrane protein.
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C5orf42 is one of the causative genes for OFDVI.
C5orf42 mutation is associated with Oral-facial-digital syndrome type VI.
We identified causal C5orf42 mutations in 9/11 families meeting OFD VI diagnostic criteria, but no mutation in individuals with partly overlapping features.
Exome sequencing revealed a likely pathogenic mutation in three novel candidate MKS (show MKS1 Antibodies) disease genes-C5orf42, EVC2 (show EVC2 Antibodies) and SEC8 (show EXOC4 Antibodies) (also known as EXOC4 (show EXOC4 Antibodies)), which encodes an exocyst protein with an established role in ciliogenesis
C5orf42 and KIAA1377 gene synergistically play a role as susceptibility genes for monomelic amyotrophy.
The data suggested that mutations in C5ORF42 explain a large percentage of French Canadian individuals with Joubert syndrome.
The protein encoded by this gene has putative coiled-coil domains and may be a transmembrane protein. Defects in this gene are a cause of Joubert syndrome (JBTS).
Transmembrane protein ENSP00000382582
, uncharacterized protein C5orf42