Sandbox GGC5: Difference between revisions
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==Titin== | =='''Titin'''== | ||
== Function == | == '''Function''' == | ||
Titin is a key component in the assembly and function of vertebrate striated muscles. Titin provides connections at the level of individual micro-filaments and contributes to the fine balance of forces between the two halves of the sarcomere. In non-muscle cells, titin plays a role in chromosome condensation and chromosome segregation during mitosis. | Titin is a key component in the assembly and function of vertebrate striated muscles. Titin provides connections at the level of individual micro-filaments and contributes to the fine balance of forces between the two halves of the sarcomere. In non-muscle cells, titin plays a role in chromosome condensation and chromosome segregation during mitosis. | ||
On the cellular level, titin is typically located within the nucleus of the cell; however, it can also be located within the cytoplasm. | On the cellular level, titin is typically located within the nucleus of the cell; however, it can also be located within the cytoplasm. | ||
== Disease == | == '''Disease''' == | ||
'''Myopathy, myofibrillar, 9, with early respiratory failure:''' | '''Myopathy, myofibrillar, 9, with early respiratory failure:''' | ||
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This myyopathy is an autosomal recessive, early-onset muscular disorder. This disease is characterized by dilated cardiomyopathy, delayed motor development with generalized muscle weakness predominantly affecting proximal and distal lower limbs. Minicore-like lesions with mitochondrial depletion and sarcomere disorganization and cenralized nuclei are present in the skeletal muscle biopsies of affected individuals. Cardiac muscle biopsies display a disruption of myocardial architecture, nuclear hypertrophy, and endomysial fibrosis. This disease can result in sudden death. Mutagenesis occurs in positions 32207 and 32341 and disrupts catalytic activity. | This myyopathy is an autosomal recessive, early-onset muscular disorder. This disease is characterized by dilated cardiomyopathy, delayed motor development with generalized muscle weakness predominantly affecting proximal and distal lower limbs. Minicore-like lesions with mitochondrial depletion and sarcomere disorganization and cenralized nuclei are present in the skeletal muscle biopsies of affected individuals. Cardiac muscle biopsies display a disruption of myocardial architecture, nuclear hypertrophy, and endomysial fibrosis. This disease can result in sudden death. Mutagenesis occurs in positions 32207 and 32341 and disrupts catalytic activity. | ||
== Relevance == | == '''Relevance''' == | ||
== Structural highlights == | == '''Structural highlights''' == | ||
•This is the <scene name='78/781193/Titin_rainbow_tc/1'>rainbow</scene> version of the titin molecule. This structure is colored to differentiate each chain, starting with the blue 5' amino end, ending with the red 3' carboxyl end. | •This is the <scene name='78/781193/Titin_rainbow_tc/1'>rainbow</scene> version of the titin molecule. This structure is colored to differentiate each chain, starting with the blue 5' amino end, ending with the red 3' carboxyl end. | ||
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</StructureSection> | </StructureSection> | ||
== References == | == '''References''' == | ||
<references/> | <references/> | ||
