Sandbox GGC11

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Function

This protein contributes to the transparency and refractive index of the eye lens. Alpha- Crystallin can act as chaperones preventing the aggregation of various proteins.

Disease

Cataracts 9, multiple types

This disease is caused by mutations affecting the eye lens. This is an opacification of the crystalline sense of the eye, in most instances, may lead to impairment or blindness.

Myopathy, Miofibrillar

A group of chronic neuromuscular disorder characterized by the disintegration of the sarcomere Z disc and myofibrils. Myopathy is characterized by weakness of proximal and distal limbs, weakness of neck, hypertrophy cardiomyopathy, and cataracts in a subset of patients.

Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin

This is another form of myopathy myofibril, but it happens in infants. It is a chronic neuromuscular disorder characterized by disintegration of sarcomere Z disc and myofibrils. MFMFIH-CRYAB has onset on the first weeks of life after the neonatal period. Affected infants show rapid muscular rigidity of trunks and limbs which is associated with increasing respiratory difficulties resulting in death before the age of 3.

Relevance

Structural highlights

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