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Gene : TSC1 Homo sapiens

Name  ? TSC complex subunit 1 Cytological Location  9q34.13
Brief Description  TSC complex subunit 1
description  This gene is a tumor suppressor gene that encodes the growth inhibitory protein hamartin. The encoded protein interacts with and stabilizes the GTPase activating protein tuberin. This hamartin-tuberin complex negatively regulates mammalian target of rapamycin complex 1 (mTORC1) signalling which is a major regulator of anabolic cell growth. This protein also functions as a co-chaperone for Hsp90 that inhibits its ATPase activity. This protein functions as a facilitator of Hsp90-mediated folding of kinase and non-kinase clients, including Tsc2 and thereby preventing their ubiquitination and proteasomal degradation. Mutations in this gene have been associated with tuberous sclerosis. [provided by RefSeq, Apr 2018]
  • synonyms:
  • LAM,
  • TSC1,
  • hamartin,
  • HGNC:12362,
  • TSC,
  • LAM,
  • KIAA0243,
  • tuberous sclerosis 1,
  • TSC,
  • uc004cca.3,
  • OTTHUMG00000020844,
  • NM_000368,
  • AF013168
  • identifiers:
  • 7248,
  • ENSG00000165699,
  • TSC1

Genome feature

Region: gene ? Length: 53921  
Location: 9:132891349-132945269 reverse strand Cyto location: 9q34.13

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3 Diseases

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3756 SN Ps

5 Cross References

20 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results