Human guanylate kinase (GUK1): cDNA sequence, expression and chromosomal localisation
Human guanylate kinase (GUK1): cDNA sequence, expression and chromosomal localisation
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DOI：
10.1016/0014-5793(96)00365-1
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发表时间：
1996-05-06
期刊：
影响因子：
3.5
通讯作者：
Hunt, DM
中科院分区：
文献类型：
--
作者：
Fitzgibbon, J;Katsanis, N;Hunt, DM
鸟苷酸激酶（GK）催化GMP转化为GTP，作为cGMP循环的一部分。在哺乳动物光转导中，该循环对于cGMP在其被磷酸二酯酶水解后的再生是必需的。该信号级联的不同部分中的突变导致人类视网膜变性，蛋白质研究已经将GK基因定位于人类1号染色体的一个区域，该区域也包含常染色体隐性形式的视网膜色素变性（RP 12）。Usher's Type 11A（USH2A）我们报告了这种人类GK（GUK 1）的序列，并进一步将其定位于1 q32 -41，将其置于与USH 2A相同的区间。
Guanylate kinase (GK) catalyses the conversion of GMP to GTP as part of the cGMP cycle, In mammalian phototransduction, this cycle is essential for the regeneration of cGMP following its hydrolysis by phosphodiesterase, Mutations in different parts of this signalling cascade lead to retinal degeneration in humans, Protein studies have localized a locus for GK to a region of human chromosome 1 that also contains an autosomal recessive form of retinitis pigmentosa (RP12) and Usher's type 11a (USH2A). We report the sequence of this human GK (GUK1) and a further refinement of its localization to 1q32-41, placing it in the same interval as USH2A.