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ATP-sensitive inwardly rectifying K+ channel OKDB#: 558
 Symbols: ATP-sensitive inwardly rectifying K+ channel Species: rat
 Synonyms: POTASSIUM CHANNEL ROM-K, ROMK, ROMK1| BARTTER SYNDROME, TYPE 2, INCLUDED|  Locus: 11q24 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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General Comment Potassium channels are present in most mammalian cells, where they participate in a wide range of physiologic responses. The diversity of potassium channel subtypes identified from the electrophysiologic studies was confirmed and extended by molecular genetic analyses of these channels. Important insight came from the observation that the 'Shaker' locus in Drosophila encodes a variety of polypeptides that produce voltage-gated potassium channels when expressed in Xenopus oocytes.

NCBI 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.
General function Channel/transport protein
Comment
Cellular localization Plasma membrane
Comment
Ovarian function Unknown
Comment
Expression regulated by
Comment
Ovarian localization
Comment This gene was found in a rat ovarian cDNA library (Unigene)
Follicle stages
Comment
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
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created: Jan. 31, 2000, midnight by: uni   email:
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last update: Aug. 13, 2001, 11:50 a.m. by: hsueh    email:



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