Growth hormone-releasing hormone receptor
Function
Receptor for GRF, coupled to G proteins which activate adenylyl cyclase. Stimulates somatotroph cell growth, growth hormone gene transcription and growth hormone secretion.
Involvement in disease
Growth hormone deficiency, isolated, 4
IGHD4
An autosomal recessive deficiency of growth hormone leading to early and severe growth failure and short stature. Patients have low but detectable levels of growth hormone, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the G-protein coupled receptor 2 family.
Tissue Specificity
Pituitary gland.
Cellular localization
- Cell membrane
- Multi-pass membrane protein
Alternative names
Growth hormone-releasing hormone receptor, GHRH receptor, Growth hormone-releasing factor receptor, GRF receptor, GRFR, GHRHR