Editing Leucine Rich Repeats And Guanylate Kinase Domain Containing Protein(LRGUK)

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Summary	A point mutation was identified in exon 14 of the Leucine-rich Repeats and Guanylate Kinase domain containing () gene, which introduces a pre-mature stop codon into the Lrguk coding sequence. The function of the LRGUK protein is currently unknown. However preliminary expression and phenotype analysis suggests that Lrguk may have a role in spermiogenesis. The deduced LRGUK protein contains several potentially important domains including a Guanylate Kinase-like (GK) domain and a number of leucine-rich repeats. The GK-like domain has some homology to guanylate kinase, a metabolic enzyme involved in purine nucleotide metabolism. Studies are currently underway to determine whether the LRGUK protein possesses guanylate kinase enzyme activity.
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