FERMT1 Gene

FERMT1 is a protein-coding gene located on chromosome 20p12.3. Diseases associated with FERMT1 include Kindler syndrome.

The encoded cytoskeletal protein (Kindlin-1) is involved in cell adhesion (adhesion protein; Fan H et al. 2020). It contributes to integrin activation (Zhang X et al. 2017). When co-expressed with talin, Kindlin-1 enhances the activation of ITGA2B.

Kindlin-1 is required for normal keratinocyte proliferation, for normal polarization of basal keratinocytes in the skin, and for normal cell morphology. Kindlin-1 is necessary for the normal adhesion of keratinocytes to fibronectin and laminin and for the normal migration of keratinocytes to skin lesions. It may mediate TGF-beta 1 signaling during tumor progression.

In animal studies, the loss of FERMT1 has been shown to impair DNA repair and keratinocyte proliferation. Furthermore, FERMT1 is important for suppressing UV-induced inflammation and DNA damage (Zhang X et al. 2017).

Mutations cause Kindler syndrome, a genetic disorder characterized by skin fragility, photosensitivity, and an increased risk of squamous cell carcinoma.

Gastric carcinoma: FERMT1 is overexpressed in gastric carcinoma compared to normal tissue (Fan H et al. 2020). Thus, it was demonstrated that patients with higher FERMT1 expression had lower survival than patients with lower FERMT1 expression. FERMT1 may be a target for the treatment of gastric cancer (Fan H et al. 2020).

1. Fan H et al (2020) FERMT1 promotes gastric cancer progression by activating the NF-κB pathway and predicts poor prognosis. Cancer Biol Ther 21: 815-825.
2. Has C et al (2015) FERMT1 promoter mutations in patients with Kindler syndrome. Clin Genet 88: 248-254.
3. Meng L et al (2020) A novel frameshift mutation in the FERMT1 gene in a Chinese patient with Kindler syndrome. Exp Ther Med 20:103.
4. Techanukul Tet al (2011) Novel and recurrent FERMT1 gene mutations in Kindler syndrome. Acta Derm Venereol 91:267-270.
5. Zhang X et al (2017) KIND1 Loss Sensitizes Keratinocytes to UV-Induced Inflammatory Response and DNA Damage. J Invest Dermatol 137: 475-483.