GONUTS has been updated to MW1.31 Most things seem to be working but be sure to report problems.

Have any questions? Please email us at ecoliwiki@gmail.com

PMID:21642240

From GONUTS
Jump to: navigation, search
Citation

Rodriguez, G, Ueyama, T, Ogata, T, Czernuszewicz, G, Tan, Y, Dorn, GW 2nd, Bogaev, R, Amano, K, Oh, H, Matsubara, H, Willerson, JT and Marian, AJ (2011) Molecular genetic and functional characterization implicate muscle-restricted coiled-coil gene (MURC) as a causal gene for familial dilated cardiomyopathy. Circ Cardiovasc Genet 4:349-58

Abstract

Dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM) are classic forms of systolic and diastolic heart failure, respectively. Mutations in genes encoding sarcomere and cytoskeletal proteins are major causes of HCM and DCM. MURC, encoding muscle-restricted coiled-coil, a Z-line protein, regulates cardiac function in mice. We investigated potential causal role of MURC in human cardiomyopathies.

Links

PubMed PMC3157556 Online version:10.1161/CIRCGENETICS.111.959866

Keywords

Animals; Cardiomyopathy, Dilated/etiology; Cardiomyopathy, Dilated/genetics; Cardiomyopathy, Hypertrophic/genetics; Case-Control Studies; DNA Mutational Analysis; Humans; Muscle Cells/metabolism; Muscle Cells/pathology; Muscle Proteins/genetics; Muscle Proteins/physiology; Mutant Proteins/genetics; Mutation; Rats; Transfection

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

HUMAN:MURC

GO:0010468: regulation of gene expression

ECO:0000315:

P

Fig 3.

complete
CACAO 5064

HUMAN:MURC

involved_in

GO:0010468: regulation of gene expression

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete


See also

References

See Help:References for how to manage references in GONUTS.