Cardiovascular

LDLR on chromosome 19p13.2 encodes the low density lipoprotein receptor, which removes LDL cholesterol from the blood, mainly in t...

SCN5A on chromosome 3p22.2 encodes the alpha subunit of the cardiac sodium channel Nav1.5, which carries the inward sodium current...

KCNQ1 on chromosome 11p15.5 encodes the pore forming alpha subunit of the slowly activating delayed rectifier potassium channel, w...

PCSK9 on chromosome 1p32.3 encodes proprotein convertase subtilisin kexin type 9, a secreted protein that binds LDL receptors on l...

MYH7 on chromosome 14q11.2 encodes beta myosin heavy chain, the motor protein that drives contraction in the ventricles of the hea...

LMNA on chromosome 1q22 encodes lamin A and lamin C, intermediate filament proteins produced by alternative splicing. Lamins form ...

BMPR2 on chromosome 2q33.1 encodes bone morphogenetic protein receptor type 2, a serine threonine kinase receptor of the TGF beta ...

FBN1 on chromosome 15q21.1 encodes fibrillin 1, a large extracellular matrix glycoprotein that assembles into microfibrils, which ...

MYBPC3 on chromosome 11p11.2 encodes cardiac myosin binding protein C, a component of the sarcomere, the contractile unit of heart...

CYP2C19 on chromosome 10q23.33 encodes a liver cytochrome P450 enzyme involved in metabolizing several widely used medicines, incl...

TTN on chromosome 2q31.2 encodes titin, the largest known human protein, which spans half a sarcomere from the Z disc to the M lin...

KCNH2 on chromosome 7q36.1 encodes the alpha subunit of the hERG potassium channel, which carries the rapid delayed rectifier curr...