Ontology highlight
ABSTRACT:
SUBMITTER: Shariat N
PROVIDER: S-EPMC2219309 | biostudies-literature | 2008 Feb
REPOSITORIES: biostudies-literature
Shariat Nikki N Ryther Robin C C RC Phillips John A JA Robinson Iain C A F IC Patton James G JG
Endocrinology 20071115 2
Splicing mutations in the human GH (hGH) gene (GH-1) that cause skipping of exon 3 result in a form of GH deficiency termed isolated GH deficiency type II (IGHD II). The GH-1 gene contains five exons; constitutive splicing produces the wild-type 22-kDa hormone, whereas skipping of exon 3 results in transcripts encoding a 17.5-kDa isoform that acts as a dominant-negative to block secretion of the wild-type hormone. Common characteristics of IGHD II include short stature due to impaired bone elong ...[more]