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PMID:8631835

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Citation

Waldmann, R, Champigny, G, Voilley, N, Lauritzen, I and Lazdunski, M (1996) The mammalian degenerin MDEG, an amiloride-sensitive cation channel activated by mutations causing neurodegeneration in Caenorhabditis elegans. J. Biol. Chem. 271:10433-6

Abstract

Mutations of the degenerins (deg-1, mec-4, mec-10) are the major known causes of hereditary neurodegeneration in the nematode Caenorhabditis elegans. We cloned a neuronal degenerin (MDEG) from human and rat brain. MDEG is an amiloride-sensitive cation channel permeable for Na+, K+, and Li+. This channel is activated by the same mutations which cause neurodegeneration in C. elegans. Like the hyperactive C. elegans degenerin mutants, constitutively active mutants of MDEG cause cell death, suggesting that gain of function of this novel neuronal ion channel might be involved in human forms of neurodegeneration.

Links

PubMed

Keywords

Acid Sensing Ion Channels; Amiloride/pharmacology; Amino Acid Sequence; Animals; Base Sequence; Caenorhabditis elegans/genetics; Cations; Degenerin Sodium Channels; Epithelial Sodium Channels; Humans; Ion Channels/drug effects; Ion Channels/genetics; Ion Channels/metabolism; Molecular Sequence Data; Nerve Tissue Proteins/genetics; Nerve Tissue Proteins/metabolism; Nervous System/pathology; Rats; Sequence Homology, Amino Acid

Significance

Annotations

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

RAT:ASIC2

GO:0005261: cation channel activity

ECO:0000266:

F

Figure 1 shows the deduced protein sequence of MDEG and comparison other members of this ion channel family.

Missing: with/from
CACAO 9462

See also

References

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