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(1996) cloned dystrobrevin. The largest ORF while in the dystrobrevin gene displays 50% homology on the cysteine-abundant and C-terminal domains of dystrophin, and 84% homology to your phosphoprotein located in the electric organ postsynaptic membrane in Torpedo californica. 5 unique mRNA transcripts were being preferentially expressed in several tissues.

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Take note: OMIM is intended for use principally by doctors along with other specialists concerned with genetic Problems, by genetics scientists, and by Sophisticated students in science and medicine. though the OMIM databases is open to the general public, users looking for information about a private professional medical or genetic situation are urged to refer to with an experienced physician for diagnosis and for responses to personal inquiries. OMIM® and on-line Mendelian Inheritance in Man® are registered emblems from the Johns Hopkins University. Copyright® 1966-2024 Johns Hopkins College. Printed: July seven, 2024 ×

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g., LGMD2C; 253700). regular dystrobrevin staining was observed in individuals with other types of limb-girdle muscular dystrophy the place dystrophin and the rest of the dystrophin-related protein complicated are Commonly expressed (e.g., LGMD2A; 253600), in addition to in other neuromuscular disorders. Their effects confirmed that dystrobrevin deficiency is usually a generic characteristic of dystrophies associated with dystrophin along with the dystrophin-involved proteins. This was the primary indication that a cytoplasmic component on the dystrophin-involved protein intricate could be involved with the pathogenesis of limb-girdle muscular dystrophy.

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