内向整流钾通道亚基Kir2.2v（KCNJN1）定位于17p11.2→p11.1。
The inwardly rectifying potassium channel subunit Kir2.2v (KCNJN1) maps to 17p11.2-->p11.1.
作者信息
Namba N, Mori R, Tanaka H, Kondo I, Narahara K, Seino Y
机构信息
Department of Pediatrics, Okayama University Medical School, Japan.
出版信息
Cytogenet Cell Genet. 1997;79(1-2):85-7. doi: 10.1159/000134688.
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.
内向整流钾离子（Kir）通道在可兴奋细胞和非可兴奋细胞的各种细胞功能中发挥重要作用。我们最近克隆了编码Kir通道亚基Kir2.2v（KCNJN1）和Kir2.2（KCNJ12）的人类基因。然而，Kir2.2v的生理作用尚未阐明。对人类中期染色体进行的荧光原位杂交分析将这两个基因都定位到了17p11.2→p11.1。两名史密斯-马吉尼斯综合征（SMS）患者的两条17号染色体的着丝粒旁区域均出现杂交信号，表明Kir2.2v和Kir2.2并不位于该综合征的最小关键区域内。
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