The inwardly rectifying potassium channel subunit Kir2.2v (KCNJN1) maps to 17p11.2-->p11.1.
Inwardly rectifying K+ (Kir) channels play important roles in various cellular functions in excitable and non-excitable cells. We recently cloned the human genes encoding the Kir channel subunits Kir2.2v (KCNJN1) and Kir2.2 (KCNJ12). However, the physiological role of Kir2.2v has not yet been clarified. Fluorescence in situ hybridization analysis of human metaphase chromosomes assigned both genes to 17p11.2-->p11.1. The presence of hybridization signals in the paracentromeric regions of both chromosomes 17 from two Smith-Magenis syndrome (SMS) patients indicated that Kir2.2v and Kir2.2 are not located within the minimum critical region of this syndrome.
Namba
N
N
Department of Pediatrics, Okayama University Medical School, Japan.
Mori
R
R
Tanaka
H
H
Kondo
I
I
Narahara
K
K
Seino
Y
Y
D000015:Abnormalities, Multiple / Q000235:genetics*; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17; D004252:DNA Mutational Analysis; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics*; D016133:Polymerase Chain Reaction; D015221:Potassium Channels / Q000235:genetics*; D024661:Potassium Channels, Inwardly Rectifying
D015221:Potassium Channels; D024661:Potassium Channels, Inwardly Rectifying; C089327:inward rectifier potassium channel 2