Hurler’s disease- mutation in a structural gene that codes for an individual lysosomal hydrolase.

TLS Online TPP Program

#Id: 8415

#XL - Q Biochemistry

Dilated cardiomyopathy

Minor missense mutations in the cardiac actin gene

TLS Online TPP Program

#Id: 8414

#XL - Q Biochemistry

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: 8413

#XL - Q Biochemistry

Troponin C is closely related to the ubiquitous 

Ca2+-binding protein calmodulin

TLS Online TPP Program

#Id: 8412

#XL - Q Biochemistry

Binding of Ca2+ ions to TN-C

triggers movement of TM to a new position on the filament, thereby exposing the myosin-binding sites on actin.

TLS Online TPP Program

#Id: 8411

#XL - Q Biochemistry

In the absence of Ca2+, muscle is relaxed

TM blocks myosin’s interaction with F-actin

TLS Online TPP Program

#Id: 8410

#XL - Q Biochemistry

TN-C is the calcium-binding subunit, controls the

position of TM on the surface of an actin filament through the TN-I and TN-T subunits