| Entrez Gene ID | 10000 |
|---|---|
| Official Gene Symbol | AKT3 (GeneCards) |
| Full name | AKT serine/threonine kinase 3 |
| Location | 1q43-q44 |
| Other ids | Vega : OTTHUMG00000039994 MIM : 611223 HGNC : HGNC:393 Ensembl : ENSG00000117020 |
| Other names | MPPH, PKBG, MPPH2, PRKBG, STK-2, PKB-GAMMA, RAC-gamma, RAC-PK-gamma |
| Summary | The protein encoded by this gene is a member of the AKT, also called PKB, serine/threonine protein kinase family. AKT kinases are known to be regulators of cell signaling in response to insulin and growth factors. They are involved in a wide variety of biological processes including cell proliferation, differentiation, apoptosis, tumorigenesis, as well as glycogen synthesis and glucose uptake. This kinase has been shown to be stimulated by platelet-derived growth factor (PDGF), insulin, and insulin-like growth factor 1 (IGF1). Alternatively splice transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008] |
Found 4 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 91 | 10000 | AKT3 | 1 | 243859016 | 243859016 | Hemimegalencephaly | Sanger |
| 92 | 10000 | AKT3 | 1 | 243859016 | 243859016 | Hemimegalencephaly | Sanger |
| 119 | 10000 | AKT3 | 1 | 243859016 | 243859016 | Megalencephaly polymicrogyria polydactyly hydrocephalus syndrome | Sanger Affimetrix 6.0 CHIPseq |
| 1164 | 10000 | AKT3 | 1 | 105246551 | 105246551 | Hemimegalencephaly | Sanger Affimetrix 6.0 CHIPseq Sanger |