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  • Human HTRA1 wild-type allele is located in the vicinity of 10q26.3 and is approximately 53 kb in length. This allele, which encodes serine protease HTRA1 protein, is involved in the mediation of proteolysis. Variations in the promoter of the gene are associated with age-related macular degeneration type 7. Mutation of the gene is associated with cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy.
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