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TNFSF11 tumor necrosis factor (ligand) superfamily, member 11

Also known as: ODF; OPGL; sOdf; CD254; OPTB2; RANKL; TRANCE; hRANKL2

Summary

This gene encodes a member of the tumor necrosis factor (TNF) cytokine family which is a ligand for osteoprotegerin and functions as a key factor for osteoclast differentiation and activation. This protein was shown to be a dentritic cell survival factor and is involved in the regulation of T cell-dependent immune response. T cell activation was reported to induce expression of this gene and lead to an increase of osteoclastogenesis and bone loss. This protein was shown to activate antiapoptotic kinase AKT/PKB through a signaling complex involving SRC kinase and tumor necrosis factor receptor-associated factor (TRAF) 6, which indicated this protein may have a role in the regulation of cell apoptosis. Targeted disruption of the related gene in mice led to severe osteopetrosis and a lack of osteoclasts. The deficient mice exhibited defects in early differentiation of T and B lymphocytes, and failed to form lobulo-alveolar mammary structures during pregnancy. Two alternatively spliced transcript variants have been found. [provided by RefSeq, Jul 2008]

Associated conditions

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DescriptionTests
Osteopetrosis autosomal recessive 2
MedGen: C1850126OMIM: 259710GeneReviews: Not available
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Genomic context

Location:
13q14
Sequence:
Chromosome: 13; NC_000013.11 (42562736..42608013)
Total number of exons:
8

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