General informationThis section has been translated automatically.
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). Kindlin-1 enhances the activation of ITGA2B when co-expressed with talin.
Kindlin-1 is required for normal keratinocyte proliferation, normal polarization of basal keratinocytes in the skin and normal cell shape. Kindlin-1 is necessary for the normal adhesion of keratinocytes to fibronectin and laminin and for the normal migration of keratinocytes to skin lesions. May mediate TGF-beta 1 signaling during tumor progression.
In animal experiments, the loss of FERMT1 impaired DNA repair and keratinocyte proliferation. FERMT1 is also important for the suppression of UV-induced inflammation and DNA damage (Zhang X et al. 2017).
Clinical pictureThis section has been translated automatically.
Mutations cause Kindler syndrome, a genetic disorder characterized by skin fragility, photosensitivity, and an increased risk of squamous cell carcinoma.
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Note(s)This section has been translated automatically.
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).
LiteratureThis section has been translated automatically.
- 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.
- Has C et al (2015) FERMT1 promoter mutations in patients with Kindler syndrome. Clin Genet 88: 248-254.
- 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.
- Techanukul Tet al (2011) Novel and recurrent FERMT1 gene mutations in Kindler syndrome. Acta Derm Venereol 91:267-270.
- Zhang X et al (2017) KIND1 Loss Sensitizes Keratinocytes to UV-Induced Inflammatory Response and DNA Damage. J Invest Dermatol 137: 475-483.
