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

FEBS Letters

Hunt, David M.³  Katsanis, Nicholas¹  Fitzgibbon, Jude³  Wells, Dagan²  Delhanty, Joy²  Vallins, William⁴ 

[1] Unit of Neurogenetics, Department of Biochemistry and Molecular Genetics, Imperial College School of Medicine at St. Mary's, Norfolk Place, London W2 1PG, UK;Department of Biology, University College London, 4 Stephenson Way, London NW1 2HE, UK;Department of Molecular Genetics, Institute of Ophthalmology, University College London, Bath St., London ECIV 9EL, UK;Pharmacia Biotechnology, 22 Grosvenor Road, St. Albans AL1 3AW, UK

关键词: Guanylate kinase;    cGMP cycle;    Phototransduction;    Usher's type 11a;   

DOI  :  10.1016/0014-5793(96)00365-1

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 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.

【 授权许可】

Unknown