Gene: TGFB1

Alternate names for this Gene: CED|DPD1|IBDIMDE|LAP|TGF-beta1|TGFB|TGFbeta

Gene Summary: 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.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.2

Description of this Gene: transforming growth factor beta 1

Type of Gene: protein-coding

Gene: B9D2

Alternate names for this Gene: ICIS-1|JBTS34|MKS10|MKSR-2|MKSR2

Gene Summary: This gene encodes a B9 domain protein, which are exclusively found in ciliated organisms. The gene is upregulated during mucociliary differentiation, and the encoded protein localizes to basal bodies and cilia. Disrupting expression of this gene results in ciliogenesis defects.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.2

Description of this Gene: B9 domain containing 2

Type of Gene: protein-coding