CD230 PRNP (prion protein), PrPc, PrPsc (abnormal form)
Molecule TypeAntigen ExpressionMolecular Weight
Min / Max
Non-lineage Restricted Molecule
GPI anchor
Dendritic Cell
Hematopoietic Cell
Nonhematopoietic Cell
Neuron
Nervous system
30 / 30
40 / 40

Expression
CD230 is broadly expressed on most cell types with the highest level on neurons and follicular dendritic cells.  Expression is also on hematopoietic and nonhematopoietic cells.  CD230 is predominantly associated with the central nervous system tissue in the abnormal isoform.

Structure
MOLECULAR FAMILY NAME: Belongs to the prion family.

CD230 is a GPI-anchored 209 aa glycoprotein.  It contains an extracellular domain which contains an α helix with a folded domain, a disordered N-terminal region incorporating 5 tandem octapeptide repeats and 2 N-linked glycosylation sites.  It has 2 transmembrane domains.  Polymorphism is associated with the five tandem repeats sequence which is unstable and insertions or delitions in these repeats are associated to prion disease.  CD230 tends to aggregate into rod-like structures. 

MOLECULAR MASS
Cell Type Unreduced Reduced
30 kDa-40 kDa

POST-TRANSCRIPTIONAL MODIFICATION: No information.

POST-TRANSLATIONAL MODIFICATION

The glycosylation pattern seems to differ in normal and CJD prions.

Ligands
LIGANDS AND MOLECULES ASSOCIATED WITH CD230

CD230 displays homotypic binding.

Function
The function of CD230 is unknown, but several studies have implicated CD230 in binding copper, oxidative stress homeostatsis, maintenance of circadoan rhythms and cell signal transduction.  Ligation leads to signal transduction through caveolin-1 to the tyrosine kinase Fyn.  CD230 appears to prevent cells from apoptosis.  T and B cells, macrophages and dendritic cells appear to accumulate and transport prions to their site of replication.  Transmission of prions through the use of blood and blood derived products is a major concern.  Assays so far have not provided the sensitivity to safeguard blood and blood products.  CD230 knockout mice remain healthy and have a normal lifespan.  Unlike wild-type mice, CD230 -/- do not become diseased when exposed to prions from any source.

BIOCHEMICAL ACTIVITY: No information.

DISEASE RELEVANCE AND FUNCTION OF CD230 IN INTACT ANIMAL

The CD230 product forms the central component of the prion infectious process and is the best molecule for rapid diagnosis of human prion diseases.  The isoform PrPsc is present in transmissible spongiform encephalopathies (TSE).  Transmission of prions through the use of blood and blood derived products is a major concern.  Assays so far have not provided the sensitivity to safeguard blood and blood products.  Transmission of prions in humans appears to be related to use of infected blood or blood products, cannibalism or ingestion of prion-infected beef.  Assays so far have not provided the sensitivity to safeguard blood and blood products.  Prions are delivered to the central nervous system via macrophages, dendritic cells and T and B cells.  CD230 aggregates bind cholesterol-rich phospholipid membranes and are cytotoxic.   Defects in CD230 cause Creutzfeldt-Jakob disease (CJD), Gerstmann-Straussler disease (GSD), fetal familial insomnia (FFI),  Huntington disease-like 1 (HDL1), Kuru (movement disorders), prion disease (dementia), and prion diseases (encephalopathies such as chronic wasting disease, BSE and scrapie).  The characteristic neuropathology associated with prion disease includes spongiform degeneration of neurons, severe astrocytic gliosis and amyloid plaque formation, which is physiologically manifested as progessive dementia and myoclonic seizures and may include insomnia, abnormally high cortical function and cerebellar and corticospinal disturbances.  Disease is fatal within 3-12 months of the onset of symptoms.


 

Comments
MOLECULAR INTERACTIONS -
PROTEINS AND DNA ELEMENTS WHICH REGULATE TRANSCRIPTION OF CD230: No information.

SUBSTRATES: No information.

ENZYMES WHICH MODIFY CD230: No information.


Database accession numbers
AnimalPIRSWISSPROTEMGBL/GENBANK
 
HumanEntrezgene 5621P04156
Antibodies

Revised June 25, 2008


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