Myotubularin is a protein that in humans is encoded by the MTM1 gene. [5]
This gene is a member of a gene family that encodes lipid phosphatases. Myotubularin is required for muscle cell differentiation and mutations in this gene have been identified as being responsible for X-linked myotubular myopathy. [5]
Centronuclear myopathies (CNM) are a group of congenital myopathies where cell nuclei are abnormally located in the center of muscle cells instead of their normal location at the periphery.
AMP deaminase 1 is an enzyme that in humans is encoded by the AMPD1 gene.
Inositol polyphosphate 5-phosphatase OCRL-1, also known as Lowe oculocerebrorenal syndrome protein, is an enzyme encoded by the OCRL gene located on the X chromosome in humans.
Fukutin is a eukaryotic protein necessary for the maintenance of muscle integrity, cortical histogenesis, and normal ocular development. Mutations in the fukutin gene have been shown to result in Fukuyama congenital muscular dystrophy (FCMD) characterised by brain malformation - one of the most common autosomal-recessive disorders in Japan. In humans this protein is encoded by the FCMD gene, located on chromosome 9q31. Human fukutin exhibits a length of 461 amino acids and a predicted molecular mass of 53.7 kDa.
Collagen alpha-1(VI) chain is a protein that in humans is encoded by the COL6A1 gene.
Exostosin-1 is a protein that in humans is encoded by the EXT1 gene.
Laminin subunit beta-1 is a protein that in humans is encoded by the LAMB1 gene.
Beta-sarcoglycan is a protein that in humans is encoded by the SGCB gene.
Polyadenylate-binding protein 2 (PABP-2) also known as polyadenylate-binding nuclear protein 1 (PABPN1) is a protein that in humans is encoded by the PABPN1 gene. PABN1 is a member of a larger family of poly(A)-binding proteins in the human genome.
Ganglioside-induced differentiation-associated protein 1 is a type of protein that in humans is encoded by the GDAP1 gene.
Myotubularin-related protein 3 is a protein that in humans is encoded by the MTMR3 gene.
Myotubularin domain represents a region within eukaryotic myotubularin-related proteins that is sometimes found with the GRAM domain. Myotubularin is a dual-specific lipid phosphatase that dephosphorylates phosphatidylinositol 3-phosphate and phosphatidylinositol (3,5)-bi-phosphate. Mutations in gene encoding myotubularin-related proteins have been associated with disease.
Acetylcholinesterase collagenic tail peptide also known as AChE Q subunit, acetylcholinesterase-associated collagen, or ColQ is the collagen-tail subunit of acetylcholinesterase found in the neuromuscular junction. In humans it is encoded by the COLQ gene.
Myotubularin-related protein 2 also known as phosphatidylinositol-3,5-bisphosphate 3-phosphatase or phosphatidylinositol-3-phosphate phosphatase is a protein that in humans is encoded by the MTMR2 gene.
Myotubularin-related protein 13 is a protein that in humans is encoded by the SBF2 gene.
Myotubularin-related protein 1 is a protein that in humans is encoded by the MTMR1 gene.
Norrin, also known as Norrie disease protein or X-linked exudative vitreoretinopathy 2 protein (EVR2) is a protein that in humans is encoded by the NDP gene. Mutations in the NDP gene are associated with the Norrie disease.
Myotubularin related protein 14 also known as MTMR14 is a protein which in humans is encoded by the MTMR14 gene.
X-linked myotubular myopathy (MTM) is a form of centronuclear myopathy (CNM) associated with mutations in the myotubularin 1 gene. It is found almost always in male infants. It is one of the severest congenital muscle diseases and is characterized by marked muscle weakness, hypotonia and feeding and breathing difficulties.
Jean-Louis Mandel, born in Strasbourg on February 12, 1946, is a French medical doctor and geneticist, and heads a research team at the Institute of Genetics and Molecular and Cellular Biology (IGBMC). He has been in charge of the genetic diagnosis laboratory at the University Hospitals of Strasbourg since 1992, as well as a professor at the Collège de France since 2003.
 | This article on a gene on the human X chromosome and/or its associated protein is a stub. You can help Wikipedia by expanding it. |
