SASH1

Description

The SASH1 (SAM and SH3 domain containing 1) is a protein-coding gene located on chromosome 6.

SAM and SH3 domain-containing protein 1 is a protein that in humans is encoded by the SASH1 gene.

SASH1 positively regulates NF-kappa-B signaling downstream of TLR4 activation. It acts as a scaffold, bringing together TRAF6, MAP3K7, CHUK and IKBKB, which facilitates NF-kappa-B signaling activation. SASH1 also regulates TRAF6 and MAP3K7 ubiquitination. SASH1 plays a role in regulating cell mobility, including lipolysaccharide (LPS)-induced endothelial cell migration. Additionally, SASH1 contributes to skin pigmentation by controlling melanocyte migration in the epidermis.

SASH1 is also known as CAPOK, DUH, DUH1, SH3D6A, dJ323M4.1.

Associated Diseases

• Dyschromatosis universalis hereditaria
• Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma