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TSC1 TSC complex subunit 1

Gene ID: 7248, updated on 26-Mar-2023
Gene type: protein coding
Also known as: LAM; TSC


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) signaling 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 and lymphangioleiomyomatosis. [provided by RefSeq, May 2022]

Associated conditions

See all available tests in GTR for this gene

Genome-wide meta-analysis identifies new susceptibility loci for migraine.
GeneReviews: Not available
Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways.
GeneReviews: Not available
Isolated focal cortical dysplasia type II
MedGen: C1846385OMIM: 607341GeneReviews: Not available
See labs
MedGen: C0751674OMIM: 606690GeneReviews: Not available
See labs
Tuberous sclerosis 1See labs

Copy number response

Copy number response

No evidence available (Last evaluated 2020-10-13)

ClinGen Genome Curation Page

Sufficient evidence for dosage pathogenicity (Last evaluated 2020-10-13)

ClinGen Genome Curation PagePubMed

Genomic context

Chromosome: 9; NC_000009.12 (132891349..132945378, complement)
Total number of exons:


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