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This gene, a member of the cadherin superfamily, encodes one of the receptor tyrosine kinases, which arecell-surface molecules that transduce signals for cell growth and differentiation. This gene plays a crucial rolein neural crest development, and it can undergo oncogenic activation in vivo and in vitro by cytogeneticrearrangement. Mutations in this gene are associated with the disorders multiple endocrine neoplasia, type IIA,multiple endocrine neoplasia, type IIB, Hirschsprung disease, and medullary thyroid carcinoma. Two transcriptvariants encoding different isoforms have been found for this gene. Additional transcript variants have beendescribed but their biological validity has not been confirmed. (provided by RefSeq, Jul 2008)This gene, a member of the cadherin superfamily, encodes one of the receptor tyrosine kinases, which arecell-surface molecules that transduce signals for cell growth and differentiation
This gene plays a crucial rolein neural crest development, and it can undergo oncogenic activation in vivo and in vitro by cytogeneticrearrangement. Mutations in this gene are associated with the disorders multiple endocrine neoplasia, type IIA,multiple endocrine neoplasia, type IIB, Hirschsprung disease, and medullary thyroid carcinoma. Two transcriptvariants encoding different isoforms have been found for this gene. Additional transcript variants have beendescribed but their biological validity has not been confirmed. (provided by RefSeq, Jul 2008)
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