GDF6 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human GDF6 wild-type allele is located in the vicinity of 8q22.1 and is approximately 18 kb in length. This allele, which encodes growth/differentiation factor 6 protein, plays a role in bone and joint formation and the regulation of cellular proliferation and differentiation in the retina. Mutations in the gene are associated with autosomal dominant Klippel-Feil syndrome 1, Leber congenital amaurosis 17, multiple synostoses syndrome 4, digenic (autosomal dominant) microphthalmia with coloboma 6 and isolated microphthalmia 4.

**Synonyms:** - BMP-13 - BMP13 - CDMP2 - Cartilage-Derived Morphogenetic Protein 2 Gene - Growth Differentiation Factor 6 wt Allele - KFM - KFS - KFS1 - KFSL - SGM1 - SYNS4 - Segmentation Syndrome 1 Gene