Aliases for GH1 Gene
External Ids for GH1 Gene
Previous GeneCards Identifiers for GH1 Gene
The protein encoded by this gene is a member of the somatotropin/prolactin family of hormones which play an important role in growth control. The gene, along with four other related genes, is located at the growth hormone locus on chromosome 17 where they are interspersed in the same transcriptional orientation; an arrangement which is thought to have evolved by a series of gene duplications. The five genes share a remarkably high degree of sequence identity. Alternative splicing generates additional isoforms of each of the five growth hormones, leading to further diversity and potential for specialization. This particular family member is expressed in the pituitary but not in placental tissue as is the case for the other four genes in the growth hormone locus. Mutations in or deletions of the gene lead to growth hormone deficiency and short stature. [provided by RefSeq, Jul 2008]
GeneCards Summary for GH1 Gene
GH1 (Growth Hormone 1) is a Protein Coding gene. Diseases associated with GH1 include Kowarski Syndrome and Isolated Growth Hormone Deficiency, Type Ib. Among its related pathways are ERK Signaling and TGF-Beta Pathway. Gene Ontology (GO) annotations related to this gene include growth factor activity and growth hormone receptor binding. An important paralog of this gene is ENSG00000285947.
UniProtKB/Swiss-Prot Summary for GH1 Gene
Plays an important role in growth control. Its major role in stimulating body growth is to stimulate the liver and other tissues to secrete IGF-1. It stimulates both the differentiation and proliferation of myoblasts. It also stimulates amino acid uptake and protein synthesis in muscle and other tissues.