Sandbox GGC11: Difference between revisions
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=='''Alpha- Crystallin AB Chain'''== | =='''Alpha- Crystallin AB Chain'''== | ||
<StructureSection load='2KRL' size='340' side='right' caption='Caption for this structure' scene=''> | <StructureSection load='2KRL' size='340' side='right' caption='Caption for this structure' scene=''> | ||
Alpha A and Alpha B Crystallin are proteins that encoded by the genes CRYAA and CRYAB. Alpha A and B are a major protein component of the mammalian eye lens. Alpha crystallin is mainly found on the lens of the eye with trace amounts in other tissues while Alpha B is essentially considered a ubiquitous protein. <ref name= "alpha">PMID:12565801</ref> | Alpha A and Alpha B Crystallin are proteins that encoded by the genes CRYAA and CRYAB. Alpha A and B are a major protein component of the mammalian eye lens. Alpha A crystallin is mainly found on the lens of the eye with trace amounts in other tissues while Alpha B is essentially considered a ubiquitous protein. <ref name= "alpha">PMID:12565801</ref> | ||
== Function == | == 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. Even though they | 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. Even though they act as molecular chaperones, they don't renature proteins and release them like true chaperones do; instead, they hold proteins in large soluble aggregates. <ref>PMID:2255369</ref> | ||
== Disease == | == Disease == | ||
'''Cataracts 9, multiple types''' | '''Cataracts 9, multiple types''' | ||
This disease is caused by mutations affecting the eye lens. One of those mutations is usually R116C where an arginine is mutated to a cysteine. R116C is generally linked to one form of autosomal congenital cataracts. Congenital cataracts refers to the opacification of the eye lens that occurs at birth while infantile cataracts refers to the opacification of eye lens that developed during the first year. <ref>PMID:26319346</ref> An opacification of the crystalline | This disease is caused by mutations affecting the eye lens. One of those mutations is usually R116C where an arginine is mutated to a cysteine. R116C is generally linked to one form of autosomal congenital cataracts. Congenital cataracts refers to the opacification of the eye lens that occurs at birth while infantile cataracts refers to the opacification of eye lens that developed during the first year. <ref>PMID:26319346</ref> An opacification of the crystalline lens of the eye occurs, in most instances, may lead to impairment or blindness. Opacities vary in morphology it might be static or progressive. <ref>PMID:11123904</ref> | ||
'''Myopathy, Miofibrillar''' | '''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. | 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. <ref>PMID:14681890</ref> | ||
'''Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin''' | '''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. | 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. <ref>PMID:21337604</ref> | ||
== 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.<ref name="alpha" /> In mammalian lens, the molar ratio between alpha A and alpha B is a 3 to 1 ratio. <ref>PMID:20836128</ref> | 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. <ref>PMID:20836128</ref> | ||
