Gene: SASH1

Alternate names for this Gene: CAPOK|DUH1|SH3D6A|dJ323M4.1

Gene Summary: 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.

Gene is located in Chromosome: 6

Location in Chromosome : 6q24.3-q25.1

Description of this Gene: SAM and SH3 domain containing 1

Type of Gene: protein-coding

rs9497975 in SASH1 gene and ACQUIRED IMMUNODEFICIENCY SYNDROME, PROGRESSION TO PMID 20041166 2009 Common genetic variation and the control of HIV-1 in humans.

rs9497975 in SASH1 gene and AIDS, PROGRESSION TO PMID 20041166 2009 Common genetic variation and the control of HIV-1 in humans.

rs6914622 in SASH1 gene and AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs6914622 in SASH1 gene and AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs6914622 in SASH1 gene and AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs6914622 in SASH1 gene and Autoimmune Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs6930576 in SASH1 gene and Diabetic Nephropathy PMID 21150874 2011 A genome-wide association study for diabetic nephropathy genes in African Americans.

rs9497975 in SASH1 gene and HIV-1, RESISTANCE TO PMID 20041166 2009 Common genetic variation and the control of HIV-1 in humans.

rs9497975 in SASH1 gene and HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO PMID 20041166 2009 Common genetic variation and the control of HIV-1 in humans.

rs9497965 in SASH1 gene and Hormone measurement PMID 23408906 2013 A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.

rs6914622 in SASH1 gene and Hypothyroidism PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs6930337 in SASH1 gene and Insulin measurement PMID 18464913 2008 A genome-wide association study identifies protein quantitative trait loci (pQTLs).

rs12191268 in SASH1 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs12527089 in SASH1 gene and Rotator cuff syndrome PMID 26350878 2016 Genome-wide association study for rotator cuff tears identifies two significant single-nucleotide polymorphisms.

rs9497965 in SASH1 gene and Thyroid stimulating hormone measurement PMID 23408906 2013 A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.