Growth hormone 1
Mutations in the growth hormone gene might be responsible for hereditary growth retardation.
Mutations that affect secretion or function of the hormone result in dwarfism due to GH deficiency. Furthermore polymorphisms in this gene have been associated with risk to hypertension and stroke.
Usually mutations in the GH1 gene are recessive. An exception is the deletion of the whole exon 3. This mutation is antimorphic, negative dominant, because it contains a cystein residue which is important for homodimer formation. If this cystein is missing in the partners protein, a disulfid bound is formed with an other cystein wich inactivates even the healthy protein.
None (2005) Growth hormone deficiency and combined pituitary hormone deficiency: does the genotype matter?
Horan M et al. (2006) Genetic variation at the growth hormone (GH1) and growth hormone receptor (GHR) loci as a risk factor for hypertension and stroke.
Lindholm J et al. (2006) Growth hormone: historical notes.
Walenkamp MJ et al. (2006) Genetic disorders in the growth hormone - insulin-like growth factor-I axis.
Update: Sept. 26, 2018