Genes associated with retinal dystrophies
AssigneesThe Jackson Laboratory, Sequana Therapeutics, Inc.
InventorsMichael North, Patsy Nishina, Juergen Naggert
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Abstract
The gene responsible for the autosomal recessive retinal degenerative disease RP 14 is identified, TULP1. The genes are used to produce the encoded protein; in screening for compositions that modulate the expression or function of TULP1 protein; and in studying associated physiological pathways. The DNA is further used as a diagnostic for genetic predisposition to retinal degeneration.
Claims2
An isolated nucleic acid molecule encoding the mammalian TULP1 protein which has the amino acid sequence of SEQ ID NO:2.
An isolated nucleic acid molecule encoding mammalian TULP1 protein which has the nucleotide sequence of SEQ ID NO:1.
Dependencies are inferred from the claim text.