Clinical Significance
Mutations in this gene have been associated with primary congenital glaucoma; therefore it is thought that the enzyme also metabolizes a signaling molecule involved in eye development, possibly a steroid.
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Famous quotes containing the word significance:
“Of what significance the light of day, if it is not the reflection of an inward dawn?—to what purpose is the veil of night withdrawn, if the morning reveals nothing to the soul? It is merely garish and glaring.”
—Henry David Thoreau (1817–1862)