LongevityMap variant

Entry Details

Longevity Association
Non-significant
Population
Bulgarian
Study Design
Codons 10 (T/C) and 25 (G/C) SNPs were examined in 17 unrelated elderly (age 65-90 years; 6 males and 11 females), 23 family members (age 18-57 years; 9 males and 14 females), and a control group with 105 randomly selected, matched for geographical distribution healthy controls aged 25-53 years (40 male and 65 female)
Conclusions
No significant differences relative to longevity were found
Identifier
TGFB1
Cytogenetic Location
19q13.2
UCSC Genome Browser
View 19q13.2 on the UCSC genome browser

Gene details

HGNC symbol
TGFB1
Aliases
CED; LAP; DPD1; TGFB; TGFbeta 
Common name
transforming growth factor beta 1 
Description
This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGFB family members. This encoded protein regulates cell proliferation, differentiation and growth, and can modulate expression and activation of other growth factors including interferon gamma and tumor necrosis factor alpha. This gene is frequently upregulated in tumor cells, and mutations in this gene result in Camurati-Engelmann disease. [provided by RefSeq, Aug 2016]
Other longevity studies of this gene
17
OMIM
190180
Ensembl
ENSG00000105329
UniProt/Swiss-Prot
TGFB1_HUMAN
Entrez Gene
7040
UniGene
645227
HapMap
View on HapMap

Homologs in model organisms

Mus musculus
Tgfb1
Rattus norvegicus
Tgfb1

In other databases

GenAge human genes
  • This gene is present as TGFB1

References

Naumova et al. (2004)

Other variants which are also part of this study