Calreticulin is a soluble protein encoded by CALR gene. Binds Ca2+ ions, rendering them inactive. Located in endoplasmic reticulum storage compartments. Functions as a quality control protein for misfolded proteins
Protein S deficiency increases risk of venous thrombosis. Protein S is vitamin K-dependent anticoagulant activating protein C. Circulates in 60% bound to C4b β-chain and 40% free form
Down syndrome results from extra genetic material on chromosome 21. Named after British physician John Langdon Down, who first described it in 1866. Occurs in about 1 in 700-1,100 live births
Chromosomal condition causing intellectual disability and distinctive facial features. Affects about 1 in 700 newborns, with 200,000 people in US having it. Characterized by flattened face, upward-pointing eyes, small ears, and tongue
Down syndrome affects about one in 700 newborns. Caused by extra chromosome 21 in cells. Three types exist: trisomy 21 (95%), translocation (3%), and mosaic (2%)
Genes are segments of DNA containing protein or RNA code. Human cells contain 46 chromosomes in 23 pairs. DNA is a double helix with base pairs A-T and G-C. Genes consist of triplet base sequences coding for amino acids