ANK2 Gene
ANK2 Gene The ANK2 gene provides instructions for making a protein called ankyrin-B. Ankyrin- B is part of a family […]
MYH11 Gene
MYH11 Gene The MYH11 gene provides instructions for making a protein called smooth muscle myosin heavy chain 11. It belongs […]
SMAD3 Gene
SMAD3 Gene The SMAD3 gene provides instructions for making a protein involved in transmitting chemical signals from the cell surface […]
SLC2A10 Gene
SLC2A10 Gene The SLC2A10 gene provides instructions for making a protein called GLUT10. GLUT10 is classified as a glucose transporter. […]
ACTA2 Gene
ACTA2 Gene ACTA2– The ACTA2 gene provides instructions for making a protein called smooth muscle alpha (α)-2 actin, which is […]
COL3A1 Gene
COL3A1 Gene The COL3A1 gene provides instructions for making type III collagen. Collagens are a family of proteins that strengthen […]
TGFBR2 Gene
TGFBR2 The TGFBR2 gene provides instructions for making a protein called transforming growth factor-beta (TGF-β) receptor type 2. The transforming […]
TGFBR1 Gene
TGFBR1 Gene The TGFBR1 gene provides instructions for making a protein called transforming growth factor-beta (TGF-β) receptor type 1. The […]
FBN1-Gene
FBN1– Mutations in the fibrillin-1 gene (FBN1) account for ~90% of autosomal dominant cases of MFS. Mutations within the FBN1 […]
Familial Hypercholesterolemia
Familial Hypercholesterolemia Familial hypercholesterolemia (FH) is a genetic condition which refers to individuals with very significantly elevated low-density lipoprotein (LDL) […]