TACSTD2
Encyclopedia
Tumor-associated calcium signal transducer 2 is a protein
that in humans is encoded by the TACSTD2 gene
.
This intron
less gene encodes a carcinoma-associated antigen
defined by the monoclonal antibody GA733. This antigen is a member of a family including at least two type I membrane protein
s. It transduces an intracellular calcium
signal and acts as a cell surface receptor. Mutations of this gene result in gelatinous drop-like corneal dystrophy
, an autosomal recessive disorder characterized by severe corneal amyloidosis leading to blindness
.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the TACSTD2 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
This intron
Intron
An intron is any nucleotide sequence within a gene that is removed by RNA splicing to generate the final mature RNA product of a gene. The term intron refers to both the DNA sequence within a gene, and the corresponding sequence in RNA transcripts. Sequences that are joined together in the final...
less gene encodes a carcinoma-associated antigen
Antigen
An antigen is a foreign molecule that, when introduced into the body, triggers the production of an antibody by the immune system. The immune system will then kill or neutralize the antigen that is recognized as a foreign and potentially harmful invader. These invaders can be molecules such as...
defined by the monoclonal antibody GA733. This antigen is a member of a family including at least two type I membrane protein
Membrane protein
A membrane protein is a protein molecule that is attached to, or associated with the membrane of a cell or an organelle. More than half of all proteins interact with membranes.-Function:...
s. It transduces an intracellular calcium
Calcium
Calcium is the chemical element with the symbol Ca and atomic number 20. It has an atomic mass of 40.078 amu. Calcium is a soft gray alkaline earth metal, and is the fifth-most-abundant element by mass in the Earth's crust...
signal and acts as a cell surface receptor. Mutations of this gene result in gelatinous drop-like corneal dystrophy
Gelatinous drop-like corneal dystrophy
Gelatinous drop-like corneal dystrophy is a rare form of human corneal dystrophy...
, an autosomal recessive disorder characterized by severe corneal amyloidosis leading to blindness
Blindness
Blindness is the condition of lacking visual perception due to physiological or neurological factors.Various scales have been developed to describe the extent of vision loss and define blindness...
.