Transforming Growth Factor, Beta-1

Alternative Names

  • TGFB1
  • TGF-Beta
  • TGFB
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OMIM Number

190180

NCBI Gene ID

7040

Uniprot ID

P01137

Length

52,336 bases

No. of Exons

7

No. of isoforms

1

Protein Name

Transforming growth factor beta-1 proprotein

Molecular Mass

44341 Da

Amino Acid Count

390

Genomic Location

chr19:41,301,587-41,353,922

Gene Map Locus
19q13.1

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NG_013364.1:g.3473=United Arab EmiratesNC_000019.10:g.41355454=AssociationType 2 Diabetes MellitusNG_013364.1:g.3473=4803457
NG_013364.1:g.4536= United Arab EmiratesNC_000019.10:g.41354391=AssociationType 2 Diabetes MellitusNG_013364.1:g.4536=1800469
NM_000660.4:c.29C>TLebanon; United Arab E...NC_000019.10:g.41353016G>ABenignBenignNG_013364.1:g.5911C>T; NM_000660.4:c.29C>T; NP_000651.3:p.Pro10Leu180047012534
NM_000660.4:c.74G>CLebanon; United Arab E...NC_000019.10:g.41352971C>GBenignBenignNG_013364.1:g.5956G>C; NM_000660.4:c.74G>C; NP_000651.3:p.Arg25Pro180047138902
NM_000660.7:c.652C>TLebanonchr19:41342230PathogenicPathogenicCamamurati-Engelmann DiseaseNG_013364.1:g.16697C>T; NM_000660.7:c.652C>T; NP_000651.3:p.Arg218Cys10489472112531

Other Reports

Bahrain

Jahromi et al. (2010) undertook a small case-control study in Caucasians to investigate the role of the TGF-beta1 gene polymorphism T (29) C located in codon 10 in the genetic predisposition to type 1 diabetes (T1D) and diabetic nephropathy (DN). A total of 388 patients with T1D and 229 normal controls were genotyped for the TGF-beta1 T (29) C gene polymorphism. From three different genotypes of TT, TC, and CC of the TGF-beta1 T (29) C, the TC frequency was found to be increased in patients with T1D compared to normal controls, P value = 0.00001. The TC frequency was found to be significantly higher in patients with DN in comparison with diabetic control, P value = 0.007. Further, the CC frequency was found to be significantly less in patients compared to healthy normal control subjects, P value = 0.005. Jahromi et al. (2010) concluded that genetic variation at the TGF-beta1 gene polymorphism T (29) C located in codon 10 is likely to confer significant susceptibility to advanced DN in patients with T1D.

Lebanon

Masri et al. 2003 studied the impact of cytokine gene polymorphisms on graft acceptance in a cohort of 163 transplant patients and their donors. Expression rates of gene polymorphisms in graft recipients-donors cohort were determined using sequence-specific polymerase (SSP) PCR primers corresponding to high, intermediate, or low producers of TNF-α, TGF-β, IL-10, IL-6, and interferon. The results were compared with a control group consisting of normal healthy Lebanese individuals. TGF-β production was observed to be high (81.6%) in patients with biopsy-proven graph rejection compared to patients with normal graph function. Patients with high TGF-β, low IL-10, and low interferon were found to have the highest CMV infection rates. Similar patterns were observed in patients with cyclosporine toxicity. Masri et al. concluded that their study indicated association of TGF-β with cyclosporine toxicity, chronic rejection, and immunosuppression.

United Arab Emirates

Mussa et al. 2021 studied the levels of inflammatory biomarkers (MCP-1, IL-6, IL-8 and TGF-β) in T2DM patients to understand their correlation with diabetic neuropathy (DNP). Significant increase in the levels of MCP-1 and IL-8, and a significant decrease in TGF-β levels were noted in patients with DNP compared to patients without DNP.

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