XB-FEAT-483959

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Revision as of 07:54, 23 August 2019 by imported>Xenbase (→‎nomenclature changes)
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kcnj1

This is the community wiki page for the gene kcnj1 please feel free to add any information that is relevant to this gene that is not already captured elsewhere in Xenbase

nomenclature changes

01/25/2015 Human name has changed for Entrez Gene: 3758. From potassium inwardly-rectifying channel, subfamily J, member 1 to potassium channel, inwardly rectifying subfamily J, member 1

04/22/ 2016 Human name has changed for Entrez Gene: 3758. From potassium channel, inwardly rectifying subfamily J, member 1 to potassium voltage-gated channel subfamily J member 1

08.23.2019 Human name has changed for Entrez Gene: 3758. From potassium voltage-gated channel subfamily J member 1 to potassium inwardly rectifying channel subfamily J member 1

Summary from NCBI, for human genes

Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The protein encoded by this gene is an integral membrane protein and inward-rectifier type potassium channel. It is activated by internal ATP and probably plays an important role in potassium homeostasis. The encoded protein has a greater tendency to allow potassium to flow into a cell rather than out of a cell. Mutations in this gene have been associated with antenatal Bartter syndrome, which is characterized by salt wasting, hypokalemic alkalosis, hypercalciuria, and low blood pressure. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]