ST14 Gene

The ST14 gene (ST14 stands for: Transmembrane Serine Protease Matriptase) is a protein coding gene located on chromosome11q24.3.

ST14 associated diseases include:

• Ichthyosis, congenital, autosomal recessive 11 (ARCI11 - OMIM: 602400 is characterized by diffuse congenital ichthyosis and generalized non-scarring hypotrichosis).

The protein encoded by this gene, type II matriptase, is an epithelial-derived integral membrane serine protease. This protease forms a complex with the Kunitz-type serine protease inhibitor, HAI-1, and is activated by sphingosine-1-phosphate. Matriptase has been shown to cleave and activate hepatocyte growth factor/scattering factor and urokinase plasminogen activator, suggesting the function of this protease as an epithelial membrane activator for other proteases and latent growth factors. Expression of this protease has been associated with breast, colon, prostate, and ovarian carcinomas (Kauppinen JMet al. 2010).

The transmembrane serine protease matriptase exhibits trypsin-like activity and is involved in terminal differentiation of keratinocytes through activation of prostasin (PRSS8) and processing of filaggrin(FLG).

Taghavi-Basmenj M et al (2019) studied a large consanguineous family of Pakistani origin with clinical symptoms of autosomal recessive congenital ichthyosis with mutaion in ST14. Sequence analysis led to the identification of a novel homozygous missense variant (c.1315G>A, p.Gly439Ser) in the ST14 gene that co-segregates with the disease phenotype in all affected members. The clinical appearance of affected individuals with the features of ACRI11-ichthyosis showed hypotrichosis (the head hair appeared light brown, woolly, frizzy, and lackluster with receding forehead hairline and sparse eyebrows and eyelashes), diffuse and dry scaling on the trunk, and low diffuse scaling on the face. The lower back area was more affected with dark brown scales. Likewise, the neck area with dry and diffuse scaling.