Assuming med12 is required, and gene is required, the following 2 results were found.
-
MED12L is a gene that plays a crucial role in transcriptional coactivation of nearly all RNA polymerase II-dependent genes. It is highly conserved across eukaryotes and contains 43 exons. The protein encoded by MED12L is a component of the Mediator...
- Type: Article
- Author: ICNA
- Category: Home
-
Opitz-Kaveggia Syndrome (OKS)https://icnapedia.org/wiki/articles/opitz-kaveggia-syndrome-oks
Mutation in the FLNA gene (Xq28). FGS4: Mutation in the CASK gene (Xp11). FGS3: Mapped to Xp22.3. FGS5: Mapped to Xq22.3. MED12 gene mutation should be reserved for Opitz-Kaveggia syndrome. Clinical Features Initial descriptions included mental...
- Type: Article
- Author: ICNA
- Category: Home