Title : PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome.

Pub. Date : 2003 Jun 10

PMID : 12796536






2 Functional Relationships(s)
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1 PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome. Phosphatidylinositol 4,5-Diphosphate potassium inwardly rectifying channel subfamily J member 2 Homo sapiens
2 CONCLUSIONS: The novel mutations corresponding to residues involved in Kir2.1 channel-PIP2 interactions presented here as well as the overall frequency of mutations occurring in these residues indicate that defects in PIP2 binding constitute a major pathogenic mechanism of ATS. Phosphatidylinositol 4,5-Diphosphate potassium inwardly rectifying channel subfamily J member 2 Homo sapiens