Description
Product Characteristics:
This gene, a member of the cadherin superfamily, encodes one of the receptor tyrosine kinases, which are cell-surface molecules that transduce signals for cell growth and differentiation. This gene plays a crucial role in neural crest development, and it can undergo oncogenic activation in vivo and in vitro by cytogenetic rearrangement. 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 transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described but their biological validity has not been confirmed. [provided by RefSeq, Jul 2008].
Subcellular location: Cytoplasm, Cell membrane
Synonyms: C ret, Cadherin family member 12, CDHF 12, CDHF12, ELKS Fusion gene, HSCR 1, HSCR1, Hydroxyaryl protein kinase, MEN2A, MEN2B, MTC 1, MTC1, Multiple endocrine neoplasia and medullary thyroid carcinoma 1, Oncogene RET, Proto oncogene tyrosine protein kinase receptor ret, Proto-oncogene c-Ret, Proto-oncogene tyrosine-protein kinase receptor ret, PTC, RET, RET ELE1, Ret Proto oncogene, RET transforming sequence, RET_HUMAN, RET51.
Target Information: This gene, a member of the cadherin superfamily, encodes one of the receptor tyrosine kinases, which are cell-surface molecules that transduce signals for cell growth and differentiation. This gene plays a crucial role in neural crest development, and it can undergo oncogenic activation in vivo and in vitro by cytogenetic rearrangement. 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 transcript variants encoding different isoforms have been found for this gene. Additional transcript variants have been described but their biological validity has not been confirmed. [provided by RefSeq, Jul 2008]