Gene Symbol | MYPN |
Entrez Gene ID | 84665 |
Full Name | myopalladin |
Synonyms | CMD1DD,CMH22,MYOP,NEM11,RCM4 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | Striated muscle in vertebrates comprises large proteins which must be organized properly to contract efficiently. Z-lines in striated muscle are a sign of this organization, representing the ends of actin thin filaments, titin, nebulin or nebulette and accessory proteins required for structure and function. This gene encodes a protein which interacts with nebulin in skeletal muscle or nebulette in cardiac muscle and alpha-actinin. In addition, this gene product can interact with a protein with the I-band indicating it has a regulatory as well as structural function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2011]. |
Disorder MIM: | |
Disorder Html: | Cardiomyopathy, dilated, 1KK, 615248 (3); Cardiomyopathy, hypertrophic, 22, 615248 (3); Cardiomyopathy, familial restrictive, 4, 615248 (3); Nemaline myopathy 11, autosomal recessive, 617336 (3) |