CTSE
Description
The CTSE (cathepsin E) is a protein-coding gene located on chromosome 1.
Cathepsin E is an enzyme encoded by the CTSE gene in humans. It is a protease belonging to the aspartic protease group, mainly found in skin and immune cells. This intracellular glycoprotein exists as a disulfide-linked homodimer and has a high-mannose type oligosaccharide chain. Cathepsin E is similar in specificity to pepsin A and cathepsin D. Unlike many proteases, it is not involved in dietary protein digestion but rather plays a role in immune function. The enzyme is highly present on the stomach’s epithelial mucus-producing cell surfaces and is the first aspartic protease found in the fetal stomach. Its abundance in more than half of gastric cancers makes it an oncofetal antigen. The CTSE gene has transcript variants with alternative polyadenylation signals and two variants encoding different isoforms.
CTSE is also known as CATE.
Associated Diseases
- prostate cancer
- graft versus host disease
- sweet syndrome
- hypotrichosis simplex of the scalp
- hyper-IgE recurrent infection syndrome 5, autosomal recessive
- diffuse nonepidermolytic palmoplantar keratoderma
- peeling skin syndrome 1
- chilblain lupus
- hyper-IgM syndrome type 3
- Netherton syndrome
- immunodeficiency 72 with autoinflammation
- immunodeficiency, common variable, 14
- T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
- pachyonychia congenita
- immune deficiency, familial variable
