LongevityMap variant

Entry Details

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
Identifier
GH1
Cytogenetic Location
17q23.3
UCSC Genome Browser
View 17q23.3 on the UCSC genome browser

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]
Other longevity studies of this gene
1
OMIM
139250
Ensembl
ENSG00000259384
UniProt/Swiss-Prot
B1A4G6_HUMAN
Entrez Gene
2688
UniGene
655229
HapMap
View on HapMap

Homologs in model organisms

No homologs found

In other databases

GenAge human genes
  • This gene is present as GH1

References

van Heemst et al. (2005)

Other variants which are also part of this study