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Human STRA6 wild-type allele is located in the vicinity of 15q24.1 and is approximately 33 kb in length. This allele, which encodes stimulated by retinoic acid gene 6 protein homolog, plays a role in both retinol metabolism and organ development. Mutation of the gene is associated with both syndromic microphthalmia type 9 and isolated colobomatous microphthalmia.
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