Gene: GHRHR

Alternate names for this Gene: GHRFR|GRFR|IGHD1B|IGHD4

Gene Summary: This gene encodes a receptor for growth hormone-releasing hormone. Binding of this hormone to the receptor leads to synthesis and release of growth hormone. Mutations in this gene have been associated with isolated growth hormone deficiency (IGHD), also known as Dwarfism of Sindh, a disorder characterized by short stature.

Gene is located in Chromosome: 7

Location in Chromosome : 7p14.3

Description of this Gene: growth hormone releasing hormone receptor

Type of Gene: protein-coding

rs4723038 in GHRHR gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs121918118 in GHRHR gene and ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV PMID 10084571 1999 Familial dwarfism due to a novel mutation of the growth hormone-releasing hormone receptor gene.

PMID 12534354 2003 A new missense mutation in the growth hormone-releasing hormone receptor gene in familial isolated GH deficiency.

PMID 11232012 2001 Three new mutations in the gene for the growth hormone (gh)-releasing hormone receptor in familial isolated gh deficiency type ib.

PMID 9467553 1998 Extensive phenotypic analysis of a family with growth hormone (GH) deficiency caused by a mutation in the GH-releasing hormone receptor gene.

PMID 8528260 1996 Nonsense mutation in the human growth hormone-releasing hormone receptor causes growth failure analogous to the little (lit) mouse.

rs4723038 in GHRHR gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.