| Entrez Gene ID | 23328 |
|---|---|
| Official Gene Symbol | SASH1 (GeneCards) |
| Full name | SAM and SH3 domain containing 1 |
| Location | 6q24.3-q25.1 |
| Other ids | Vega : OTTHUMG00000015773 MIM : 607955 HGNC : HGNC:19182 Ensembl : ENSG00000111961 |
| Other names | SH3D6A, dJ323M4.1 |
| 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. [provided by RefSeq, Oct 2016] |
Found 5 variants in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 8948 | 23328 | SASH1 | 6 | 148710951 | 148710951 | Asymptomatic | HiSeq X Ten |
| 9871 | 23328 | SASH1 | 6 | 148760962 | 148760962 | Asymptomatic | HiSeq X Ten |
| 10061 | 23328 | SASH1 | 6 | 148878012 | 148878012 | Cockayne syndrome | HiSeq X Ten |
| 29333 | 23328 | SASH1 | 6 | 148855947 | 148855947 | Autism Spectrum Disorders | HiSeq X Ten MiSeq |
| 29639 | 23328 | SASH1 | 6 | 148835535 | 148835535 | Autism Spectrum Disorders | HiSeq X Ten MiSeq |