" /> MTMR1 wt Allele - CISMeF





Preferred Label : MTMR1 wt Allele;

NCIt synonyms : Myotubularin Related Protein 1 wt Allele;

NCIt 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.;

NCI Metathesaurus CUI : CL1778786;

GenBank Accession Number : U58032;

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31/07/2025


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