LongevityMap Gene

Gene details

HGNC symbol
GH1 
Aliases
GH; GHN; GH-N; GHB5; hGH-N; IGHD1B 
Common name
growth hormone 1 
Description
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]
Cytogenetic Location
17q23.3
UCSC Genome Browser
View 17q23.3 on the UCSC genome browser
OMIM
139250
Ensembl
ENSG00000259384
UniProt/Swiss-Prot
B1A4G6_HUMAN
Entrez Gene
2688
UniGene
655229
1000 Genomes
1000 Genomes

Homologs in model organisms

No homologs found

In other databases

GenAge human genes
  • This gene is present as GH1

Studies (2)

Significant/Non-significant: 1/1

Study 1

Longevity Association
Significant
Population
Dutch
Study Design
Intron 4 A/T SNP was examined in 1576 individuals aged 85 and older
Conclusions
Female carriers of the A allele had reduced height and mortality
Indentifier
GH1
Reference

    Study 2

    Longevity Association
    Non-significant
    Population
    Italian (Southern)
    Study Design
    A two-stage case-control study was performed to identify the association between longevity and variation of in homeostasis regulation pathway genes. 317 SNPs in 104 genes were analyzed in 78 cases (≥90 years, median age 98 years, 42 females) and 71 controls (<90 years, median age 67 years, 32 females) in stage 1. Then, 31 candidate SNPs identified in stage 1 (π markers = 0.1) were analyzed in an independent sample composed by 288 cases (≥90 years, median age 92 years, 163 females) and 554 controls (<90 years, median age 67 years, 277 females).
    Conclusions
    After adjustment for multiple testing, no significant association was identified between various SNPs and longevity.
    Indentifier
    rs2854184
    Reference