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FLASH GENE
Symbol CRHR1 contributors: mct/shn/pgu - updated : 16-09-2010
HGNC name corticotropin releasing hormone receptor 1
HGNC id 2357
ASSOCIATED DISORDERS
corresponding disease(s) DEL17Q21 , DUP17Q21
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional       gain of function
promotes insulin secretion, thus contributing to the restoration of normoglycemic equilibrium
constitutional     --over  
in ectopic rather than eutopic endometrium of women with endometriosis
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS
  • the medulla and the adrenal gland of mice lacking Crhr1 is atrophied and stress-induced release of adrenocorticotropic hormone (ACTH) and corticosterone is reduced
  • mice null for the CRFR1 gene display markedly reduced anxiety and fail to exhibit the characteristic hormonal response to stress
  • CRFR1-null mice have lower totalpancreatic islet numbers, consistent with a role for Crhr1 in the regulation of beta cell mass (Huising 2010)
  • constitutive Crhr1 knockout (KO, Crhr1KO) mice show reduced anxiety-related behavior