GDF5 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human GDF5 wild-type allele is located in the vicinity of 20q11.2 and is approximately 5 kb in length. This allele, which encodes growth/differentiation factor 5 protein, is involved in skeletal development. Mutations in the gene produce variants that are associated with acromesomelic dysplasia, Hunter-Thompson type; brachydactyly, type C; and chondrodysplasia, Grebe type.

**Synonyms:** - BDA1C - BMP-14 - BMP14 - CDMP1 - Growth Differentiation Factor 5 wt Allele - LAP-4 - LAP4 - OS5 - SYM1B - SYNS2