SSX1 Chromosome X
SSX family member 1
Upload your DNA to see your personal genotypes for variants in SSX1.
What This Gene Does
The product of this gene belongs to the family of highly homologous synovial sarcoma X (SSX) breakpoint proteins. These proteins may function as transcriptional repressors. They are also capable of eliciting spontaneous humoral and cellular immune responses in cancer patients, and are potentially useful targets in cancer vaccine-based immunotherapy. This gene, and also the SSX2 and SSX4 family members, have been involved in t(X;18)(p11.2;q11.2) translocations that are characteristically found in all synovial sarcomas. This translocation results in the fusion of the synovial sarcoma translocation gene on chromosome 18 to one of the SSX genes on chromosome X. The encoded hybrid proteins are likely responsible for transforming activity. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome X. [provided by RefSeq, Jul 2013]
Gene Info
Gene Group
"SSX family|KRAB domain containing"
Locus Type
gene with protein product
Location
Xp11.23
Ensembl
ENSG00000126752
Associated Conditions (4)
Spermatogenic failure
X-linked
5
SSX1-related disorder
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS191372051 | Health Risk | Conflicting classifications of pathogenicity | Spermatogenic failure, X-linked, 5 |
| RS2059592140 | Health Risk | Pathogenic | Spermatogenic failure, X-linked, 5 |
| RS781822167 | Health Risk | Pathogenic | Spermatogenic failure, X-linked, 5 |