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  • Human ASPH wild-type allele is located in the vicinity of 8q12.3 and is approximately 214 kb in length. This allele, which encodes aspartyl/asparaginyl beta-hydroxylase, junctin-1, junctin-2 and junctate proteins, plays a role in amino acid hydroxylation and calcium ion sensing. Mutation of the gene is associated with facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs (FDLAB or Traboulsi syndrome).
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