gopubmed logo
 
find other proteinsAll proteins
GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Aug 2016.

Protein-O-mannosyltransferase 2

POMT2
The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT1 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS).[provided by RefSeq, Oct 2008] (from NCBI)
Top mentioned proteins: fukutin, POMGnT1, MT1, CAN, HAD
Papers on POMT2
Prenatal Diagnosis of Walker-Warburg Syndrome Using Single Nucleotide Polymorphism Array: A Clinical Experience from Three Related Palestinian Families with Congenital Hydrocephalus.
New
Hunt et al., Winnipeg, Canada. In Ajp Rep, Oct 2015
Results A diagnosis of WWS was found and molecular testing revealed a known pathogenic mutation in the POMT2 gene.
Dystroglycanopathy with two novel POMT1 mutations in a Chinese boy with developmental delay and muscular dystrophy.
Lam et al., Hong Kong, Hong Kong. In Eur J Paediatr Neurol, 2014
Alpha-dystroglycanopathies are a group of diseases due to reduced glycosylation of alpha-dystroglycan, which commonly result from mutations in POMT1, POMT2, and POMGnT1.
Adeno-associated virus-mediated overexpression of LARGE rescues α-dystroglycan function in dystrophic mice with mutations in the fukutin-related protein.
Lu et al., Charlotte, United States. In Hum Gene Ther Methods, 2014
Multiple genes (e.g., POMT1, POMT2, POMGnT1, ISPD, GTDC2, B3GALNT2, FKTN, FKRP, and LARGE) are known to be involved in the glycosylation pathway of α-dystroglycan (α-DG).
Genetic basis of limb-girdle muscular dystrophies: the 2014 update.
Review
Savarese et al., Napoli, Italy. In Acta Myol, 2014
The autosomal recessive forms (LGMD2) are: LGMD2A (calpain 3), LGMD2B (dysferlin), LGMD2C (γ sarcoglycan), LGMD2D (α sarcoglycan), LGMD2E (β sarcoglycan), LGMD2F (δ sarcoglycan), LGMD2G (telethonin), LGMD2H (TRIM32), LGMD2I (FKRP), LGMD2J (titin), LGMD2K (POMT1), LGMD2L (anoctamin 5), LGMD2M (fukutin), LGMD2N (POMT2), LGMD2O (POMTnG1), LGMD2P (dystroglycan), LGMD2Q (plectin), LGMD2R (desmin), LGMD2S (TRAPPC11), LGMD2T (GMPPB), LGMD2U (ISPD), LGMD2V (Glucosidase, alpha ), LGMD2W (PINCH2).
A fourth case of POMT2-related limb girdle muscle dystrophy with mild reduction of α-dystroglycan glycosylation.
Mora et al., Milano, Italy. In Eur J Paediatr Neurol, 2014
BACKGROUND: POMT2 mutations have been identified in Walker-Warburg syndrome or muscle-eye-brain-like, but rarely in limb girdle muscular dystrophy (LGMD).
Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy.
Jefferies et al., Houston, United States. In Eur J Hum Genet, 2014
In particular, POMT2 (protein O-mannosyltransferase-2) mutations have been identified in congenital muscular dystrophy patients with a wide range of clinical involvement, ranging from the severe muscle-eye-brain disease and Walker-Warburg syndrome to limb girdle muscular dystrophy without structural brain or ocular involvement.
Skeletal muscle MRI of the lower limbs in congenital muscular dystrophy patients with novel POMT1 and POMT2 mutations.
Fischer et al., Basel, Switzerland. In Neuromuscul Disord, 2014
Within this group mutations in the protein O-mannosyltransferase genes (POMT1 and POMT2) are known to cause a spectrum of CMD disorders including the Walker-Warburg Syndrome with severe brain and ocular malformations, and the limb girdle muscular dystrophy with and without mental retardation.
Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?
Boltshauser et al., Zürich, Switzerland. In Cerebellum, 2014
The POMT1, POMT2, POMGnT1, FKRP, FKTN, LARGE, ISPD, B3GALNT2, and GPR56 genes were screened in all patients by Sanger sequencing.
160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome.
Wieczorek et al., Essen, Germany. In Eur J Med Genet, 2013
The disease family of muscular dystrophy-dystroglycanopathy (MDDG) contains a spectrum of severe to mild disorders, designated as MDDG type A to C. WWS, as the most severe manifestation, corresponds to MDDG type A. Defects in the genes POMT1, POMT2, POMGNT1, FKTN, FKRP, LARGE, GTDC2, G3GALNT2, GMPPB, B3GNT1, TMEM5 and COL4A1 and ISPD have been described as causal for several types of MDDG including WWS, but can only be confirmed in about 60-70% of the clinically diagnosed individuals.
Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients.
Xiong et al., Beijing, China. In Mol Genet Genomics, 2013
Four candidate genes (POMGnT1, FKRP, FKTN and POMT2) were screened, and six POMGnT1 mutations (four novel) were identified, including five missense and one splice site mutation.
Molecular diagnosis of congenital muscular dystrophies with defective glycosylation of alpha-dystroglycan using next-generation sequencing technology.
Chae et al., Seoul, South Korea. In Neuromuscul Disord, 2013
Although approximately 95% of both coding and noncoding regions were covered with at least 15-read depth, parts of the coding exons of FKRP and POMT2 were insufficiently covered.
Different roles of the two components of human protein O-mannosyltransferase, POMT1 and POMT2.
GeneRIF
Endo et al., Tokyo, Japan. In Biochem Biophys Res Commun, 2011
the effects of replacing Arg(64), Glu(78) and Arg(138)residues in human POMT1 and POMT2 with Ala on complex formation and enzymatic activity were studied.
Role of N-glycans in maintaining the activity of protein O-mannosyltransferases POMT1 and POMT2.
GeneRIF
Endo et al., Tokyo, Japan. In J Biochem, 2010
the N-glycosylation of POMT1 and POMT2 is required for maintaining the conformation as well as the activity of the POMT1-POMT2 complex.
Increased apoptosis of myoblasts in Drosophila model for the Walker-Warburg syndrome.
GeneRIF
Nishihara et al., Hachiōji, Japan. In Plos One, 2009
Study demonstrated that expression of RNA interference (RNAi) for the rt gene and the tw mutant was almost completely lethal and semi-lethal, respectively.
POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies.
GeneRIF
Guicheney et al., Tokyo, Japan. In Methods Enzymol, 2009
the function of the gene products is only known for POMT1, POMT2, and POMGnT1, all responsible for the O-mannosylglycan biosynthesis
POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation.
GeneRIF
Guicheney et al., Paris, France. In Eur J Med Genet, 2009
POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation are reported.
Muscular dystrophies due to glycosylation defects.
Review
Brockington et al., London, United Kingdom. In Neurotherapeutics, 2008
In the last few years, muscular dystrophies due to reduced glycosylation of alpha-dystroglycan (ADG) have emerged as a common group of conditions, now referred to as dystroglycanopathies. Mutations in six genes (POMT1, POMT2, POMGnT1, Fukutin, FKRP and LARGE) have so far been identified in patients with a dystroglycanopathy.
[Fukuyama congenital muscular dystrophy and related alpha-dystroglycanopathies].
Review
Nishino et al., Tokyo, Japan. In Brain Nerve, 2008
So far, 6 causative genes have been identified: LARGE, POMGNT1, POMT1, POMT2, FKRP, and FKTN.
[Congenital muscular dystrophy and alpha-dystroglycanopathy].
Review
Shimizu et al., In Rinsho Shinkeigaku, 2008
Mutations in the protein O-mannose beta-1, 2-N-acetylglucosaminyltransferase (POMGnT-1) and protein O-mannosyltransferase 1 and 2 (POMT1 and POMT2) genes cause muscle-eye-brain disease and Walker-Warburg syndrome, respectively.
Congenital Muscular Dystrophy Overview
Review
Pegoraro et al., Seattle, United States. In Unknown Journal, 2001
The main CMD subtypes, grouped by involved protein function and gene in which causative mutations occur, are laminin alpha-2 (merosin) deficiency (MDC1A), collagen VI-deficient CMD, the dystroglycanopathies (caused by mutations in POMT1, POMT2, FKTN, FKRP, LARGE, POMGNT1, and ISPD), SEPN1-related CMD (previously known as rigid spine syndrome, RSMD1) and LMNA-related CMD (L-CMD).
share on facebooktweetadd +1mail to friends