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Sandbox GGC11
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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. | 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 == | == Relevance == | ||
| - | Alpha Crystallin A 1-172 is found at nearly 2 folds higher in diabetic lenses than an aged matched control lens. In humans, the alpha A gene is found in chromosome 21 and encodes for 173 amino acid residues while the alpha B gene is found in chromosome 11 and encodes for 175 amino acids. In mammalian lens, the molar ratio between alpha A and alpha B is a 3 to 1 ratio. | + | Alpha Crystallin A 1-172 is found at nearly 2 folds higher in diabetic lenses than an aged matched control lens. In humans, the alpha A gene is found in chromosome 21 and encodes for 173 amino acid residues while the alpha B gene is found in chromosome 11 and encodes for 175 amino acids.<ref name="alpha" /> In mammalian lens, the molar ratio between alpha A and alpha B is a 3 to 1 ratio. |
== Structural highlights == | == Structural highlights == | ||
Revision as of 03:19, 11 November 2020
Alpha- Crystallin AB Chain
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References
- ↑ 1.0 1.1 Horwitz J. Alpha-crystallin. Exp Eye Res. 2003 Feb;76(2):145-53. doi: 10.1016/s0014-4835(02)00278-6. PMID:12565801 doi:http://dx.doi.org/10.1016/s0014-4835(02)00278-6
