Article
The acetylcholinesterase homology region is essential for normal conformational maturation and secretion of thyroglobulin.
The Journal of biological chemistry - 23 Apr 2004
Park Young-Nam, Arvan Peter
Abstract excerpt
Secretion of thyroglobulin (Tg, a large homodimeric glycoprotein) is essential to deliver Tg to its site of iodination for thyroxine biosynthesis. An L2263P missense mutation in Tg has been proposed as the molecular defect causing congenital goitrous hypothyroidism in cog/cog mice due to perturbed Tg homodimerization, resulting in its retention within the endoplasmic reticulum. The mutation falls within a...
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