Phospho-ROM-K (S44) Polyclonal Antibody, 100µg, (ATB-P1160)

Description

Background:

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]

In the kidney, probably plays a major role in potassium homeostasis. Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it. Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages. The inward rectification is mainly due to the blockage of outward current by internal magnesium. This channel is activated by internal ATP and can be blocked by external barium.

Product datasheet:

References:

1. Expanding the spectrum of genetic mutations in antenatal Bartter syndrome type II. Fretzayas A, et al. Pediatr Int, 2013 Jun. PMID 23782368
2. Refining genome-wide linkage intervals using a meta-analysis of genome-wide association studies identifies loci influencing personality dimensions. Amin N, et al. Eur J Hum Genet, 2013 Aug. PMID 23211697 Free PMC Article
3. Association of KCNJ1 variation with change in fasting glucose and new onset diabetes during HCTZ treatment. Karnes JH, et al. Pharmacogenomics J, 2013 Oct. PMID 22907731 Free PMC Article
4. Structural changes in the cytoplasmic pore of the Kir1.1 channel during pHi-gating probed by FRET. Lee JR, et al. J Biomed Sci, 2009 Mar 6. PMID 19272129 Free PMC Article
5. A novel mutation in KCNJ1 in a Bartter syndrome case diagnosed as pseudohypoaldosteronism. Nozu K, et al. Pediatr Nephrol, 2007 Aug. PMID 17401586
6. Cloning and characterization of multiple forms of the human kidney ROM-K potassium channel.
   Shuck M.E., Bock J.H., Benjamin C.W., Tsai T.-D., Lee K.S., Slightom J.L., Bienkowski M.J.
   J. Biol. Chem. 269:24261-24270(1994) [PubMed] [Europe PMC] Cited for: NUCLEOTIDE SEQUENCE [MRNA], ALTERNATIVE SPLICING. Tissue: Kidney.
7. Alternative splicing of human inwardly rectifying K+ channel ROMK1 mRNA.
   Yano H., Philipson L.H., Kugler J.L., Tokuyama Y., Davis E.M., le Beau M.M., Nelson D.J., Bell G.I., Takeda J.
   Mol. Pharmacol. 45:854-860(1994) [PubMed] [Europe PMC] Cited for: NUCLEOTIDE SEQUENCE [MRNA], ALTERNATIVE SPLICING. Tissue: Kidney.
8. Nucleotide sequence analysis of the human KCNJ1 potassium channel locus.
   Bock J.H., Shuck M.E., Benjamin C.W., Chee M., Bienkowski M.J., Slightom J.L.
   Gene 188:9-16(1997) [PubMed] [Europe PMC] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], ALTERNATIVE SPLICING.
9. Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R.
   , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
   Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases

   Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).