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