Familial hypertrophic cardiomyopathy

point mutations in cardiac β-myosin heavy chain gene mutations in other genes encoding contractile proteins including myosin light chains, cardiac troponin,

and tropomyosin. 

TLS Online TPP Program

#Id: 7946

#Section 3: Genetics, Cellular and Molecular Biology

O-linked oligosaccharides

Carbohydrate chains in glycoproteins attached to the

hydroxyl group (-OH) in serine and threonine residues

TLS Online TPP Program

#Id: 7945

#Section 3: Genetics, Cellular and Molecular Biology

Glycoproteins

Proteins with attached carbohydrates

TLS Online TPP Program

#Id: 7944

#Section 3: Genetics, Cellular and Molecular Biology

Membrane and soluble secretory proteins synthesized on the rough ER undergo four principal modifications before they reach their final destinations: 

(1) Glycosylation in the ER and Golgi complex

(2) Formation of disulfide bonds in the ER

(3) Proper folding of polypeptide chains and assembly of multisubunit proteins in the ER

(4) Specific proteolytic cleavages in the ER, Golgi complex, and secretory vesicles

TLS Online TPP Program

#Id: 7943

#Section 3: Genetics, Cellular and Molecular Biology

Classes of ER membrane proteins

TLS Online TPP Program

#Id: 7942

#Section 3: Genetics, Cellular and Molecular Biology

TLS Online TPP Program

#Id: 7941

#Section 3: Genetics, Cellular and Molecular Biology

The translocon was first identified through mutations in the yeast gene encoding a protein called Sec61α