MTMR2 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human MTMR2 wild-type allele is located in the vicinity of 11q21 and is approximately 104 kb in length. This allele, which encodes myotubularin-related protein 2, plays a role in dephosphorylation of phosphatidylinositol phosphates. Mutation of the gene is associated with Charcot-Marie-Tooth disease type 4B1.

**Synonyms:** - CMT4B - CMT4B1 - KIAA1073 - Myotubularin Related Protein 2 wt Allele - Phosphatidylinositol-3-Phosphatase Gene - Phosphoinositide-3-Phosphatase Gene