This gene encodes 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. [provided by RefSeq, Mar 2014]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| DEPDC5-20-RE | 20 (40 μL) | 200 μL |  |
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| DEPDC5-20-OR | 20 (40 μL) | 200 μL |  |
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| DEPDC5-20-GO | 20 (40 μL) | 200 μL |  |
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| DEPDC5-20-GR | 20 (40 μL) | 200 μL |  |
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| DEPDC5-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes 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. [provided by RefSeq, Mar 2014]
Gene Symbol : DEPDC5
Gene Name : DEP domain containing 5
Chromosome : CHR 22: 317,539,50-319,070,33
Locus : 22q12.2-q12.3
Alt. Genes : HIPK3
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