SASH1 gene

SAM and SH3 domain containing 1

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

May have a role in a signaling pathway. Could act as a tumor suppressor.

From NCBI Gene:

  • CANCER, ALOPECIA, PIGMENT DYSCRASIA, ONYCHODYSTROPHY, AND KERATODERMA
  • Dyschromatosis universalis hereditaria 1

Cytogenetic Location: 6q24.3-q25.1, which is the long (q) arm of chromosome 6 between positions 24.3 and 25.1

Molecular Location: base pairs 148,193,440 to 148,552,050 on chromosome 6 (Homo sapiens Updated Annotation Release 109.20190607, GRCh38.p13) (NCBI)

Cytogenetic Location: 6q24.3-q25.1, which is the long (q) arm of chromosome 6 between positions 24.3 and 25.1
  • CAPOK
  • dJ323M4.1
  • DUH1
  • SH3D6A