SASH1 Chromosome 6
SAM and SH3 domain containing 1
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What This Gene Does
This gene encodes a scaffold protein involved in the TLR4 signaling pathway that may stimulate cytokine production and endothelial cell migration in response to invading pathogens. The encoded protein has also been described as a potential tumor suppressor that may negatively regulate proliferation, apoptosis, and invasion of cancer cells, and reduced expression of this gene has been observed in multiple human cancers. Mutations in this gene may be associated with abnormal skin pigmentation in human patients. [provided by RefSeq, Oct 2016]
Gene Info
Gene Group
"SAM and SH3 domain containing|Sterile alpha motif domain containing"
Locus Type
gene with protein product
Location
6q24.3-q25.1
Ensembl
ENSG00000111961
Associated Conditions (13)
Inborn genetic diseases
Hereditary cancer
Dyschromatosis universalis hereditaria 1
dyschromatosis
Ungual dystrophy
spino-cellular carcinoma
Alopecia
Palmoplantar keratoderma
Cancer
alopecia
pigment dyscrasia
onychodystrophy
and keratoderma
Key Variants
RS139892427
Conflicting classifications of pathogenicity
Inborn genetic diseases, Hereditary cancer, Inborn genetic diseases
Health Risk
RS1562489143
Likely pathogenic
Dyschromatosis universalis hereditaria 1, Dyschromatosis universalis hereditaria 1
Health Risk
RS1562489156
Likely pathogenic
Dyschromatosis universalis hereditaria 1, Dyschromatosis universalis hereditaria 1
Health Risk
RS1562489224
Likely pathogenic
Dyschromatosis universalis hereditaria 1, Dyschromatosis universalis hereditaria 1
Health Risk
RS1562489240
Likely pathogenic
Dyschromatosis universalis hereditaria 1, Dyschromatosis universalis hereditaria 1
Health Risk
RS1562490566
Likely pathogenic
Dyschromatosis universalis hereditaria 1, Dyschromatosis universalis hereditaria 1, Dyschromatosis universalis hereditaria 1
Health Risk
RS1781526992
Likely pathogenic
Dyschromatosis universalis hereditaria 1, Dyschromatosis universalis hereditaria 1
Health Risk
RS2484380389
Likely pathogenic
Dyschromatosis universalis hereditaria 1, Dyschromatosis universalis hereditaria 1
Health Risk
RS374850271
Likely pathogenic
Dyschromatosis universalis hereditaria 1, Dyschromatosis universalis hereditaria 1
Health Risk
RS1562489165
Pathogenic
Dyschromatosis universalis hereditaria 1, Dyschromatosis universalis hereditaria 1
Health Risk
RS587781245
Pathogenic/Likely pathogenic
dyschromatosis, Ungual dystrophy, spino-cellular carcinoma
Health Risk
All Variants (11)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139892427 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Hereditary cancer, Inborn genetic diseases |
| RS1562489143 | Health Risk | Likely pathogenic | Dyschromatosis universalis hereditaria 1, Dyschromatosis universalis hereditaria 1 |
| RS1562489156 | Health Risk | Likely pathogenic | Dyschromatosis universalis hereditaria 1, Dyschromatosis universalis hereditaria 1 |
| RS1562489224 | Health Risk | Likely pathogenic | Dyschromatosis universalis hereditaria 1, Dyschromatosis universalis hereditaria 1 |
| RS1562489240 | Health Risk | Likely pathogenic | Dyschromatosis universalis hereditaria 1, Dyschromatosis universalis hereditaria 1 |
| RS1562490566 | Health Risk | Likely pathogenic | Dyschromatosis universalis hereditaria 1, Dyschromatosis universalis hereditaria 1, Dyschromatosis universalis hereditaria 1 |
| RS1781526992 | Health Risk | Likely pathogenic | Dyschromatosis universalis hereditaria 1, Dyschromatosis universalis hereditaria 1 |
| RS2484380389 | Health Risk | Likely pathogenic | Dyschromatosis universalis hereditaria 1, Dyschromatosis universalis hereditaria 1 |
| RS374850271 | Health Risk | Likely pathogenic | Dyschromatosis universalis hereditaria 1, Dyschromatosis universalis hereditaria 1 |
| RS1562489165 | Health Risk | Pathogenic | Dyschromatosis universalis hereditaria 1, Dyschromatosis universalis hereditaria 1 |
| RS587781245 | Health Risk | Pathogenic/Likely pathogenic | dyschromatosis, Ungual dystrophy, spino-cellular carcinoma |