TSC1 Chromosome 9
TSC complex subunit 1
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What This Gene Does
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]
Gene Info
Gene Group
"Armadillo like helical domain containing|TSC complex"
Locus Type
gene with protein product
Location
9q34.13
Ensembl
ENSG00000165699
Associated Conditions (37)
Tuberous sclerosis 1
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Lymphangiomyomatosis
TSC1-related disorder
Acute myeloid leukemia
Cholangiocarcinoma
Familial cancer of breast
Hereditary cancer
Ovarian cancer
Primitive neuroectodermal tumor
Focal cortical dysplasia of Taylor type 2B
Autism spectrum disorder
Malignant tumor of breast
Craniopharyngioma
Kidney failure
Epilepsy
Seizure
Intellectual disability
+17 more conditions
Key Variants
RS1007335343
Conflicting classifications of pathogenicity
Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome, Isolated focal cortical dysplasia type II
Health Risk
RS1033463168
Conflicting classifications of pathogenicity
Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
Health Risk
RS1033725987
Conflicting classifications of pathogenicity
Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome, Lymphangiomyomatosis
Health Risk
RS1041071543
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1, Tuberous sclerosis syndrome
Health Risk
RS1041988929
Conflicting classifications of pathogenicity
Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
Health Risk
RS1047485135
Conflicting classifications of pathogenicity
Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
Health Risk
RS1057520508
Conflicting classifications of pathogenicity
Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
Health Risk
RS1057522203
Conflicting classifications of pathogenicity
Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
Health Risk
RS1057522817
Conflicting classifications of pathogenicity
Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome, Lymphangiomyomatosis
Health Risk
RS1057524690
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1, Isolated focal cortical dysplasia type II
Health Risk
RS1060503191
Conflicting classifications of pathogenicity
Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome, Tuberous sclerosis syndrome
Health Risk
RS1060503192
Conflicting classifications of pathogenicity
Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome, TSC1-related disorder
Health Risk
All Variants (1115)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS118203735 | Health Risk | Pathogenic/Likely pathogenic | Tuberous sclerosis syndrome, Tuberous sclerosis 1, Tuberous sclerosis syndrome |
| RS1554817227 | Health Risk | Pathogenic/Likely pathogenic | Tuberous sclerosis 1, Tuberous sclerosis 1 |
| RS1554817388 | Health Risk | Pathogenic/Likely pathogenic | Tuberous sclerosis 1, Tuberous sclerosis 1 |
| RS1564474542 | Health Risk | Pathogenic/Likely pathogenic | Tuberous sclerosis 1, Tuberous sclerosis syndrome, Tuberous sclerosis 1 |
| RS1564477162 | Health Risk | Pathogenic/Likely pathogenic | Tuberous sclerosis 1, Tuberous sclerosis 1 |
| RS1564497308 | Health Risk | Pathogenic/Likely pathogenic | Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1 |
| RS1588290078 | Health Risk | Pathogenic/Likely pathogenic | Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1, Tuberous sclerosis syndrome |
| RS1588355838 | Health Risk | Pathogenic/Likely pathogenic | Tuberous sclerosis 1, Tuberous sclerosis 1 |
| RS1846010451 | Health Risk | Pathogenic/Likely pathogenic | Lymphangiomyomatosis, Tuberous sclerosis 1, Isolated focal cortical dysplasia type II |
| RS1846678053 | Health Risk | Pathogenic/Likely pathogenic | Tuberous sclerosis 1, Tuberous sclerosis syndrome, Tuberous sclerosis 1 |
| RS1846685279 | Health Risk | Pathogenic/Likely pathogenic | Tuberous sclerosis 1, Tuberous sclerosis 1 |
| RS2131943928 | Health Risk | Pathogenic/Likely pathogenic | Tuberous sclerosis 1, Tuberous sclerosis syndrome, Tuberous sclerosis 1 |
| RS2131975092 | Health Risk | Pathogenic/Likely pathogenic | Tuberous sclerosis 1, Tuberous sclerosis 1 |
| RS2132185885 | Health Risk | Pathogenic/Likely pathogenic | Tuberous sclerosis 1, Tuberous sclerosis 1 |
| RS2132219029 | Health Risk | Pathogenic/Likely pathogenic | Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1 |