XB-FEAT-981705: Difference between revisions
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Human name has changed for Entrez Gene: 7249. From tuberous sclerosis 2 to TSC complex subunit 2 | Human name has changed for Entrez Gene: 7249. From tuberous sclerosis 2 to TSC complex subunit 2 | ||
=summary from NCBI= | |||
Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008] | |||
Latest revision as of 06:52, 20 July 2017
tsc2
This is the community wiki page for the gene tsc2 please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase
nomenclature changes
06/26/2017 Human name has changed for Entrez Gene: 7249. From tuberous sclerosis 2 to TSC complex subunit 2
summary from NCBI
Mutations in this gene lead to tuberous sclerosis complex. Its gene product is believed to be a tumor suppressor and is able to stimulate specific GTPases. The protein associates with hamartin in a cytosolic complex, possibly acting as a chaperone for hamartin. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]