TBCK gene

TBC1 domain containing kinase

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From NCBI Gene:

  • Hypotonia, infantile, with psychomotor retardation and characteristic facies 3

Cytogenetic Location: 4q24, which is the long (q) arm of chromosome 4 at position 24

Molecular Location: base pairs 106,044,317 to 106,316,704 on chromosome 4 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 4q24, which is the long (q) arm of chromosome 4 at position 24
  • HSPC302
  • IHPRF3
  • TBCKL