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DEPDC5
DEP Domain Containing 5
DEPDC5 is a member of the IML1 family of proteins involved in G-protein signaling pathways. The mechanistic target of rapamycin complex 1 (mTORC1) pathway regulates cell growth by sensing the availability of nutrients. The protein encoded by this gene is a component of the GATOR1 (GAP activity toward Rags) complex which inhibits the amino acid-sensing branch of the mTORC1 pathway. Mutations in this gene are associated with autosomal dominant familial focal epilepsy with variable foci. A single nucleotide polymorphism in an intron of this gene has been associated with an increased risk of hepatocellular carcinoma in individuals with chronic hepatitis C virus infection. Alternative splicing results in multiple transcript variants.
| Gene Name: | DEP Domain Containing 5 |
| Synonyms: | DEPDC5, DEP domain containing 5, DEP.5, KIAA0645 |
| Target Sequences: | AB014545 BAA31620.2 O75140 |
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