LEMD3 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human LEMD3 wild-type allele is located in the vicinity of 12q14.3 and is approximately 79 kb in length. This allele, which encodes inner nuclear membrane protein Man1, plays a role in the downregulation of transforming growth factor beta (TGF-B) receptor signaling. Mutations in the gene have been associated with osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.

**Synonyms:** - LEM Domain Containing 3 wt Allele - MAN1