MTMR1

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Description

The MTMR1 (myotubularin related protein 1) is a protein-coding gene located on chromosome X.

MTMR1, encoded by the MTMR1 gene, is a member of the myotubularin-related protein family. These proteins contain the active site sequence characteristic of protein tyrosine phosphatases. While alternative splicing has been observed, its biological significance remains unclear.

MTMR1 is a lipid phosphatase that specifically removes phosphate groups from phosphatidylinositol 3-phosphate. It does not interact with phosphatidylinositol 4-phosphate, phosphatidylinositol (4,5)-bisphosphate, or phosphatidylinositol (3,4,5)-trisphosphate. Its activity on phosphatidylinositol (3,5)-bisphosphate is debated, with some studies indicating activity and others finding none.

MTMR1 is also known as -.

Associated Diseases

• alpha thalassemia-intellectual disability syndrome type 1
• thrombocytopenia 4
• macrothrombocytopenia, isolated, 2, autosomal dominant
• beta-thalassemia-X-linked thrombocytopenia syndrome
• hemolytic anemia due to adenylate kinase deficiency
• Heinz body anemia
• autosomal dominant macrothrombocytopenia
• delta-beta-thalassemia
• hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
• IRIDA syndrome
• platelet-type bleeding disorder 15
• hemoglobin D disease
• hemoglobin E-beta-thalassemia syndrome
• platelet-type bleeding disorder 10
• hemoglobin C-beta-thalassemia syndrome
• dominant beta-thalassemia
• thrombocytopenia 2
• familial isolated congenital asplenia