MTMR1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human MTMR1 wild-type allele is located in the vicinity of Xq28 and is approximately 72 kb in length. This allele, which encodes myotubularin-related protein 1, is involved in phosphatidylinositol 3-phosphate metabolism. A chromosomal deletion that results in a fusion comprised of exon 4 of the MAMLD1 fused to exon 3 of this gene is associated with X-linked hypospadias type 2.

**Synonyms:** - Myotubularin Related Protein 1 wt Allele