Gene family associated with neurosensory defects

Chemistry: natural resins or derivatives; peptides or proteins; – Peptides of 3 to 100 amino acid residues – 25 or more amino acid residues in defined sequence

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530325, 530326, 530827, 530839, 530350, A61K 3817, C07K 14435, C07K 1900

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active

061145025

ABSTRACT:
Nucleic acid compositions are provided that encode a family of mammalian proteins expressed in the retina and brain. Members of the gene family are genetically linked to various neurosensory defects, including cochlear degeneration, peripheral retinal degeneration and cone-rod retinal dystrophy. The nucleic acid compositions find use in identifying DNA sequences encoding homologous or related proteins; for production of the encoded protein; and in studying associated physiological pathways. In addition, modulation of the gene activity in vivo is used for prophylactic and therapeutic purposes, such as treatment of neurosensory defects, identification of retinal cells based on expression, and the like. The DNA is further used as a diagnostic for genetic predisposition to the linked neurosensory defect.

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