GDF5

Full Name: Growth Differentiation Factor 5

Genomic Location: Chromosome 20:35,433,347-35,454,746

Protein Size: 501 amino acids

Function:

Growth factor involved in bone and cartilage formation. During cartilage development regulates differentiation of chondrogenic tissue through two pathways. Firstly, positively regulates differentiation of chondrogenic tissue through its binding of high affinity with BMPR1B and of less affinity with BMPR1A, leading to induction of SMAD1-SMAD5-SMAD8 complex phosphorylation and then SMAD protein signalling transduction. Secondly, negatively regulates chondrogenic differentiation through its interaction with NOG. Required to prevent excessive muscle loss upon denervation. This function requires SMAD4 and is mediated by phosphorylated SMAD1/5/8. Binds bacterial lipopolysaccharide (LPS) and mediates LPS-induced inflammatory response, including TNF secretion by monocytes.

Linked SNP(s):

  • rs143383 is linked to GDF5, it is located in the 5’-UTR region.
  • Population frequencies are approximately 48% for the reference allele (T) and 52% for the alternate allele (C).
  • Studies suggest the T allele is associated with meniscus injuries.
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