Gene Symbol | TBCK |
Entrez Gene ID | 93627 |
Full Name | TBC1 domain containing kinase |
Synonyms | HSPC302,IHPRF3,TBCKL |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a protein that contains a protein kinase domain, a Rhodanase-like domain and the Tre-2/Bub2/Cdc16 (TBC) domain. The encoded protein is thought to play a role in actin organization, cell growth and cell proliferation by regulating the mammalian target of the rapamycin (mTOR) signaling pathway. This protein may also be involved in the transcriptional regulation of the components of the mTOR complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]. |
Disorder MIM: | |
Disorder Html: | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 (3) |