Rabbit Anti-KCNJ6 Recombinant Antibody (CBLG1-2323) (CBMAB-G6177-LY)

Name: Rabbit Anti-KCNJ6 Recombinant Antibody (CBLG1-2323)
SKU: CBMAB-G6177-LY
Rating: 5 (1 reviews)

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Datasheet

SDS

Request for COA

Datasheet Target References Q & As Review & reward Protocols Associated Products

Basic Information

Host Animal

Rabbit

Clone

CBLG1-2323

Application

Specificity

Human, Mouse, Rat

Antibody Isotype

IgG

Application Notes

The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Formulations & Storage [For reference only, actual COA shall prevail!]

Format

Liquid

Purity

> 95% Purity determined by SDS-PAGE.

Storage

Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

More Infomation

Target

Full Name

Potassium Voltage-Gated Channel Subfamily J Member 6

Introduction

This gene encodes a member of the G protein-coupled inwardly-rectifying potassium channel family of inward rectifier potassium channels. This type of potassium channel allows a greater flow of potassium into the cell than out of it. These proteins modulate many physiological processes, including heart rate in cardiac cells and circuit activity in neuronal cells, through G-protein coupled receptor stimulation. Mutations in this gene are associated with Keppen-Lubinsky Syndrome, a rare condition characterized by severe developmental delay, facial dysmorphism, and intellectual disability. [provided by RefSeq, Apr 2015]

Entrez Gene ID

Human	3763
Mouse	16522
Rat	25743

UniProt ID

Human	P48051
Mouse	P48542
Rat	P48550

Function

This potassium channel may be involved in the regulation of insulin secretion by glucose and/or neurotransmitters acting through G-protein-coupled receptors. 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.

Biological Process

Potassium ion import across plasma membraneManual Assertion Based On ExperimentIBA:GO_Central
Potassium ion transportManual Assertion Based On ExperimentTAS:ProtInc
Regulation of ion transmembrane transportManual Assertion Based On ExperimentIBA:GO_Central

Cellular Location

Membrane

Involvement in disease

Keppen-Lubinsky syndrome (KPLBS):
A rare disease characterized by severe developmental delay, intellectual disability, severe generalized lipodystrophy, dysmorphic features including microcephaly, large prominent eyes, narrow nasal bridge, tented upper lip, high palate, open mouth, tightly adherent skin, and aged appearance.

Topology

Cytoplasmic: 1-89
Helical: 90-114
Extracellular: 115-138
Helical: 139-150
Pore-forming: 151-157
Extracellular: 158-166
Helical: 167-188
Cytoplasmic: 189-423

Popova, D., Gameiro-Ros, I., Youssef, M. M., Zalamea, P., Morris, A. D., Prytkova, I., ... & Hart, R. P. (2023). Alcohol reverses the effects of KCNJ6 (GIRK2) noncoding variants on excitability of human glutamatergic neurons. Molecular Psychiatry, 28(2), 746-758.

van Midden, V. M., Kinsley, L., Fraint, A., Krainc, D., & Mencacci, N. E. (2023). Expanding the spectrum of KCNJ6‐related disorders: Milder phenotype with pathological startle responses. Clinical genetics, 103(1), 103-108.

Ozberk, D., Haywood, A., Sutherland, H. G., Yu, C., Albury, C. L., Zunk, M., ... & Haupt, L. M. (2022). Association of KCNJ6 rs2070995 and methadone response for pain management in advanced cancer at end-of-life. Scientific Reports, 12(1), 17422.

Haupt, L., Ozberk, D., Haywood, A., Sutherland, H., Yu, C., Albury, C., ... & Hardy, J. (2022). Personalising pain management in advanced cancer: is KCNJ6 A1032G associated with methadone response?.

Gao, J., Wang, J., Han, Y., Deng, Q., Wang, X., Cai, W., & Chen, Y. (2022). Clinical characteristics and genetic analysis of an ethnic Han Chinese child with Keppen-Lubinsky syndrome due to a de novo KCNJ6 mutation. Zhonghua yi xue yi Chuan xue za zhi= Zhonghua Yixue Yichuanxue Zazhi= Chinese Journal of Medical Genetics, 39(1), 35-38.

Antonaros, F., Pitocco, M., Abete, D., Vione, B., Piovesan, A., Vitale, L., ... & Pelleri, M. C. (2021). Structural characterization of the highly restricted Down syndrome critical region on 21q22. 13: new KCNJ6 and DSCR4 transcript isoforms. Frontiers in Genetics, 12, 770359.

Ziegler, G. C., Röser, C., Renner, T., Hahn, T., Ehlis, A. C., Weber, H., ... & Lesch, K. P. (2020). KCNJ6 variants modulate reward‐related brain processes and impact executive functions in attention‐deficit/hyperactivity disorder. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 183(5), 247-257.

Horvath, G. A., Zhao, Y., Tarailo-Graovac, M., Boelman, C., Gill, H., Shyr, C., ... & van Karnebeek, C. D. (2018). Gain-of-function KCNJ6 mutation in a severe hyperkinetic movement disorder phenotype. Neuroscience, 384, 152-164.

Joshi, K., Shen, L., Cao, F., Dong, S., Jia, Z., Cortez, M. A., & Snead III, O. C. (2018). Kcnj6 (GIRK2) trisomy is not sufficient for conferring the susceptibility to infantile spasms seen in the Ts65Dn mouse model of down syndrome. Epilepsy Research, 145, 82-88.

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Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme-Linked Immunospot (ELISpot)
Proteogenomics
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For research use only. Not intended for any clinical use.

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