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Protein O-Mannosyltransferase 2 (POMT2)

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Dolichyl-phosphate-mannose--protein mannosyltransferase 2

Protein O-Mannosyltransferase 2 (POMT2)
CCC F750
HGNC 19743
MGI 2444430
PubMed 18490429
RGD 1586427
UniProt Q9UKY4
Wiki POMT2
POMT2 is an integral membrane protein of the endoplasmic reticulum (ER) that shares significant sequence similarity with a family of protein O-mannosyltransferases of S. cerevisiae.
Highly expressed in testis; detected at low levels in most tissues.
Defects in POMT2 are a cause of Walker-Warburg syndrome (WWS); also known as hydrocephalus-agyria-retinal dysplasia or HARD syndrome. WWS is an autosomal recessive disorder characterized by cobblestone lissencephaly, hydrocephalus, agyria, retinal displasia, with or without encephalocele. It is often associated with congenital muscular dystrophy and usually lethal within the first few months of life.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Protein O-Mannosyltransferase 2 (POMT2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Protein O-Mannosyltransferase 2 (POMT2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Protein O-Mannosyltransferase 2 (POMT2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Protein O-Mannosyltransferase 2 (POMT2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Protein O-Mannosyltransferase 2 (POMT2) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Protein O-Mannosyltransferase 2 (POMT2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Protein O-Mannosyltransferase 2 (POMT2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Protein O-Mannosyltransferase 2 (POMT2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Protein O-Mannosyltransferase 2 (POMT2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Protein O-Mannosyltransferase 2 (POMT2) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Protein O-Mannosyltransferase 2 (POMT2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Protein O-Mannosyltransferase 2 (POMT2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Protein O-Mannosyltransferase 2 (POMT2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Protein O-Mannosyltransferase 2 (POMT2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Protein O-Mannosyltransferase 2 (POMT2) ELISA Kit Customized Service Offer
  1. "Characterization of POMT2, a novel member of the PMT protein O-mannosyltransferase family specifically localized to the acrosome of mammalian spermatids."Glycobiology 12:771-783(2002) [PubMed] [Europe PMC] [Abstract]
  2. "The DNA sequence and analysis of human chromosome 14." Nature 421:601-607(2003) [PubMed] [Europe PMC] [Abstract]
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  4. "The full-ORF clone resource of the German cDNA consortium."BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
  5. "Demonstration of mammalian protein O-mannosyltransferase activity: coexpression of POMT1 and POMT2 required for enzymatic activity."Proc. Natl. Acad. Sci. U.S.A. 101:500-505(2004) [PubMed] [Europe PMC] [Abstract]
  6. "POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome."J. Med. Genet. 42:907-912(2005) [PubMed] [Europe PMC] [Abstract]
  7. "POMT2 mutation in a patient with 'MEB-like' phenotype."Neuromuscul. Disord. 16:446-448(2006) [PubMed] [Europe PMC] [Abstract]
  8. "POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes."Biochem. Biophys. Res. Commun. 363:1033-1037(2007) [PubMed] [Europe PMC] [Abstract]
  9. "Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan." Brain 130:2725-2735(2007) [PubMed] [Europe PMC] [Abstract]
  10. "New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation."Neurology 69:1254-1260(2007) [PubMed] [Europe PMC] [Abstract]
  11. "POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation."Eur. J. Med. Genet. 52:201-206(2009) [PubMed] [Europe PMC] [Abstract]
  12. "Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study." Neurology 72:1802-1809(2009) [PubMed] [Europe PMC] [Abstract]
  13. "Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome." Am. J. Hum. Genet. 91:541-547(2012) [PubMed] [Europe PMC] [Abstract]