Aliases for SASH1 Gene
External Ids for SASH1 Gene
Previous GeneCards Identifiers for SASH1 Gene
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]
GeneCards Summary for SASH1 Gene
SASH1 (SAM And SH3 Domain Containing 1) is a Protein Coding gene. Diseases associated with SASH1 include Pigmentation Defects-Palmoplantar Keratoderma-Skin Carcinoma Syndrome and Lentiginosis, Inherited Patterned. Gene Ontology (GO) annotations related to this gene include protein kinase binding and protein-containing complex scaffold activity. An important paralog of this gene is SAMSN1.
UniProtKB/Swiss-Prot for SASH1 Gene
May have a role in a signaling pathway. Could act as a tumor suppressor.