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Rabbit Anti-Kir4.1 antibody
The KIR (for inwardly rectifying potassium channel) family of potassium channels possess a greater tendency to allow potassium to flow into the cell rather than out of it. KIR4.1, also known as Kir1.2, is highly expressed in brain including glial cells, astrocytes and cortical neurons. KIR4.1 is also expressed in myelin-synthesizing oligodendrocytes and is crucial to myelination in the developing nervous system. The gene encoding human KIR4.1 maps to chromosome 1. KIR4.2, also known as Kir1.3, is expressed in kidney, lung, heart, thymus and thyroid during development. The gene encoding human KIR4.2 maps to chromosome 21 in the Down syndrome chromosome region 1, and KIR4.2 may play a role in the pathogenesis of Down’s syndrome. KIR5.1 forms functional channels only by coexpression with either KIR4.1 or KIR4.2 in the kidney and pancreas. The gene encoding human KIR5.1 maps to chromosome 17.
Function:
May be responsible for potassium buffering action of glial cells in the brain. 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. Can be blocked by extracellular barium and cesium.
Subunit:
Seems to form heterodimer with Kir5.1/KCNJ16. Interacts with INADL
Subcellular Location:
Membrane; Multi-pass membrane protein.
DISEASE:
Defects in KCNJ10 are the cause of seizures-sensorineural deafness-ataxia-mental retardation-electrolyte imbalance (SESAME) [MIM:612780]. A complex disorder characterized by generalized seizures with onset in infancy, delayed psychomotor development, ataxia, sensorineural hearing loss, hypokalemia, metabolic alkalosis, and hypomagnesemia.
Similarity:
Belongs to the inward rectifier-type potassium channel (TC 1.A.2.1) family. KCNJ10 subfamily.
SWISS:
P78508
Gene ID:
3766
Database links:
Entrez Gene: 3766 Human
Entrez Gene: 16513 Mouse
Entrez Gene: 29718 Rat
Omim: 602208 Human
SwissProt: P78508 Human
SwissProt: Q9JM63 Mouse
SwissProt: P49655 Rat
Unigene: 408960 Human
Unigene: 254563 Mouse
Unigene: 10196 Rat
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