Ontology highlight
ABSTRACT:
SUBMITTER: Qin J
PROVIDER: S-EPMC4861430 | biostudies-literature | 2016 Apr
REPOSITORIES: biostudies-literature
Qin Jiayue J Wang Zhizhi Z Hoogeveen-Westerveld Marianne M Shen Guobo G Gong Weimin W Nellist Mark M Xu Wenqing W
The Journal of biological chemistry 20160218 16
Mutations in TSC1 or TSC2 cause tuberous sclerosis complex (TSC), an autosomal dominant disorder characterized by the occurrence of benign tumors in various vital organs and tissues. TSC1 and TSC2, the TSC1 and TSC2 gene products, form the TSC protein complex that senses specific cellular growth conditions to control mTORC1 signaling. TBC1D7 is the third subunit of the TSC complex, and helps to stabilize the TSC1-TSC2 complex through its direct interaction with TSC1. Homozygous inactivation of T ...[more]