Human guanylate kinase (GUK1): cDNA sequence, expression and chromosomal localisation

被引:20
作者
Fitzgibbon, J
Katsanis, N
Wells, D
Delhanty, J
Vallins, W
Hunt, DM
机构
[1] UCL, INST OPHTHALMOL, DEPT MOLEC GENET, LONDON EC1V 9EL, ENGLAND
[2] UNIV LONDON IMPERIAL COLL SCI TECHNOL & MED, ST MARYS HOSP, SCH MED, DEPT BIOCHEM & MOL GENET, LONDON W2 1PG, ENGLAND
[3] UNIV LONDON UNIV COLL, DEPT BIOL, LONDON NW1 2HE, ENGLAND
[4] PHARMACIA BIOTECHNOL, ST ALBANS AL1 3AW, HERTS, ENGLAND
基金
英国惠康基金;
关键词
guanylate kinase; cGMP cycle; phototransduction; Usher's type 11a;
D O I
10.1016/0014-5793(96)00365-1
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
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.
引用
收藏
页码:185 / 188
页数:4
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