| Primary Identifier | MGI:95708 | Organism | mouse, laboratory |
| Chromosome | 15 | NCBI Gene Number | 14600 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables growth hormone receptor activity and peptide hormone binding activity. Involved in growth hormone receptor signaling pathway via JAK-STAT and regulation of growth. Acts upstream of with a positive effect on taurine metabolic process. Located in nucleus and plasma membrane. Is expressed in several structures, including alimentary system; brain; early conceptus; genitourinary system; and integumental system. Used to study Laron syndrome. Human ortholog(s) of this gene implicated in several diseases, including Laron syndrome; familial hypercholesterolemia; isolated growth hormone deficiency; osteoarthritis; and type 2 diabetes mellitus. Orthologous to human GHR (growth hormone receptor). PHENOTYPE: Homozygotes for targeted null mutations exhibit retarded postnatal growth, proportionate dwarfism, decreased plasma insulin-like growth factor I levels, small pituitaries, reduced fecundity in females, and extended life-span. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
