TMPRSS13
Description
The TMPRSS13 (transmembrane serine protease 13) is a protein-coding gene located on chromosome 11.
TMPRSS13 is a serine protease that plays a role in activating other proteins. It cleaves the inactive forms of PRSS8/prostasin and HGF, transforming them into their active forms. The activation of HGF leads to the stimulation of MAPK signaling. TMPRSS13 is also involved in the formation of the stratum corneum and the epidermal barrier during embryonic development.
TMPRSS13 is also known as MSP, MSPL, MSPS, TMPRSS11.
Associated Diseases
- hereditary palmoplantar keratoderma, Gamborg-Nielsen type
- erythrokeratodermia variabilis
- Olmsted syndrome 1
- pretibial dystrophic epidermolysis bullosa
- ichthyosis, lamellar, autosomal dominant
- Graham Little-Piccardi-Lassueur syndrome
- ichthyosis histrix, Lambert type
- focal palmoplantar keratoderma
- ichthyosis hystrix of Curth-Macklin
- hypotrichosis simplex
- porokeratosis of Mibelli
- intellectual disability, FRA12A type
- peeling skin syndrome 6
- palmoplantar keratoderma-deafness syndrome
- hyperkeratosis lenticularis perstans
- seborrhea-like dermatitis with psoriasiform elements
- hypotrichosis simplex of the scalp
- cancer
