Overview:

RET gene codes for a transmembrane tyrosine kinase which is a subunit of a multimeric complex that acts as a receptor for four structurally related molecules: GDNF, neurturin, artemin and persephin (1). Germline mutations of RET cause a dominantly inherited dysgenesis of the enteric nervous system known as Hirschsprung's disease. RET is constitutively activated by point mutations in hereditary medullary thyroid carcinomas (MTCs). Several single nucleotide polymorphisms of the RET gene have been described. Multiple endocrine neoplasia type 2A (MEN 2A) have been reported to be associated with two mutations of the protooncogene RET (2).

Gene Aliases:

PTC, RET51, CDHF12, CDHR16, RET-ELE1, MTC1, HSCR1, MEN2A, MEN2B

Genbank Number:

NM_020630

References:

1. Geneste, O. et al: Two distinct mutations of the RET receptor causing Hirschsprung's disease impair the binding of signalling effectors to a multifunctional docking site. Hum Mol. Genet. 1999; 8(11):1989-99.

2. Kahn, Tessitore, A. et al: A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RET protooncogene. J. Clin. Endocrinol. Metab. 1999; 84(10):3522-7.