MUC19
Description
The MUC19 (mucin 19, oligomeric) is a protein-coding gene located on chromosome 12.
Mucins are a family of high molecular weight, heavily glycosylated proteins (glycoconjugates) produced by epithelial tissues in most animals. Mucins' key characteristic is their ability to form gels; therefore they are a key component in most gel-like secretions, serving functions from lubrication to cell signalling to forming chemical barriers. They often take an inhibitory role. Some mucins are associated with controlling mineralization, including nacre formation in mollusks, calcification in echinoderms and bone formation in vertebrates. They bind to pathogens as part of the immune system. Overexpression of the mucin proteins, especially MUC1, is associated with many types of cancer. Although some mucins are membrane-bound due to the presence of a hydrophobic membrane-spanning domain that favors retention in the plasma membrane, most mucins are secreted as principal components of mucus by mucous membranes or are secreted to become a component of saliva.
== Genes and proteins == Human mucins include genes with the HUGO symbol MUC 1 through 22. Of these mucins, the following classes have been defined by localization:
Secreted mucins in humans, with their chromosomal location, repeat size in amino acids (aa), whether they are gel-forming (Y) or not (N), and their tissue expression.
Membrane-bound (transmembrane) mucins: MUC1, MUC3A, MUC3B, MUC4, MUC12, MUC13, MUC15, MUC16, MUC17, MUC21 (formerly C6orf205), MUC22 (highly polymorphic) The major secreted airway mucins are MUC5AC and MUC5B, while MUC2 is secreted mostly in the intestine but also in the airway.
MUC19 is also known as MUC-19.
Associated Diseases
- breast cancer
- van der Woude syndrome
- C1 inhibitor deficiency
- hearing loss-familial salivary gland insensitivity to aldosterone syndrome
- autosomal systemic lupus erythematosus type 16
- immunodeficiency due to MASP-2 deficiency
- complement component C1s deficiency
- Parkinson disease
