| Name | potassium inwardly-rectifying channel, subfamily J, member 1 |
| Symbol | KCNJ1 |
| Aliases | ROMK; ROMK1; KIR1.1; ATP-regulated potassium channel ROM-K |
| Gene Product | - potassium inwardly-rectifying channel J1 isoform c
- potassium inwardly-rectifying channel J1 isoform a
- potassium inwardly-rectifying channel J1 isoform b
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| Category | |
| UniGene |
Hs.463
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| Reference Sequence |
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| OMIM and SNP |
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| Locus |
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| Summary | 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. Five transcript variants encoding three different isoforms have been found for this gene. |
| Gene Ontology | |
| Expression | | EST (32 ESTs, 8 libraries) |
| Tissue | Breadth ? |
CPM ? |
| kidney |  | | | lymph node |  | | | uncharacterized tissue | | |
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| SAGE (1373625 tags, 23 libraries) |
| Tissue | Breadth ? |
CPM ? |
| brain | | | | colon | | | | eye | | | | kidney | | | | liver | | | | mammary gland | | | | prostate | | | | uncharacterized tissue | | | | vascular | | |
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| Evidence | Mutation in System Syndrom with Kidney Involvment
- Jeck N, Derst C, Wischmeyer E, Ott H, Weber S, Rudin C, Seyberth HW, Daut J, Karschin A, Konrad M, Jeck N, Derst C, Wischmeyer E, Ott H, Weber S, Rudin C, Seyberth HW, Daut J, Karschin A, Konrad M Functional heterogeneity of ROMK mutations linked to hyperprostaglandin Esyndrome. Kidney Int 2001 May;59(5):1803-11.
Other key publications related to this gene
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