Blood

HBB on chromosome 11p15.4 encodes beta globin, a subunit of adult hemoglobin A, which consists of two alpha and two beta chains. H...

F8 on chromosome Xq28 encodes coagulation factor VIII, a cofactor for factor IXa in the intrinsic tenase complex that activates fa...

JAK2 on chromosome 9p24.1 encodes Janus kinase 2, a cytoplasmic tyrosine kinase that transmits signals from receptors for erythrop...

G6PD on chromosome Xq28 encodes glucose 6 phosphate dehydrogenase, the rate limiting enzyme of the pentose phosphate pathway, whic...

HBA1 and its near identical neighbor HBA2, both in the alpha globin cluster on chromosome 16p13.3, encode alpha globin, which pair...

F9 on chromosome Xq27.1 encodes coagulation factor IX, a vitamin K dependent serine protease that, once activated, forms a complex...

VWF on chromosome 12p13.31 encodes von Willebrand factor, a large multimeric glycoprotein made by endothelial cells and megakaryoc...

F5 on chromosome 1q24.2 encodes coagulation factor V, a cofactor that, once activated, greatly accelerates the conversion of proth...