Title : Molecular heterogeneity of RET loss of function in Hirschsprung's disease.

Pub. Date : 1996 Jun 3

PMID : 8654369






1 Functional Relationships(s)
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1 The HSCR972 (Arg972-->Gly) mutation, mapping in the intracytoplasmic region of RET, impaired its tyrosine kinase activity, while two extracellular mutations, HSCR32 (Ser32-->Leu) and HSCR393 (Phe393-->Leu), inhibited the biological activity of RET by impairing the correct maturation of the RET protein and its transport to the cell surface. Glycine ret proto-oncogene Homo sapiens