title: PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13.
abstract: We have cloned the human homologue of SEC53 or yeast phosphomannomutase (HGMW-approved symbol PMM1) from a liver cDNA library. This cDNA encodes a protein of 262 amino acids with a predicted molecular mass of 29 kDa and 54% identity with yeast phosphomannomutase. Expression of the human cDNA in Escherichia coli yielded an active phosphomannomutase, which was purified to homogeneity. Northern blot analysis of human tissues showed strong expression in liver, heart, brain, and pancreas and a lower expression in skeletal muscle. The gene was assigned to chromosome 22q13.1 by the use of hybrid cell lines and by fluorescence in situ hybridization. Most patients presenting with carbohydrate-deficient glycoprotein syndrome type 1 (CDG1 or Jaeken disease) have a greatly reduced phosphomannomutase activity; the gene encoding this enzyme is a likely candidate for CDG1. Since the CDG1 locus maps else where in the genome (16p13), mutations in the phosphomannomutase gene encoded by chromosome 22 are not a major cause of CDG1.
authors.affiliation: Center for Human Genetics, University of Leuven, Belgium. gert.matthijs@med.kuleuven.ac.be
authors.forename: G
authors.initials: G
authors.lastname: Matthijs
authors.forename: E
authors.initials: E
authors.lastname: Schollen
authors.forename: M
authors.initials: M
authors.lastname: Pirard
authors.forename: M L
authors.initials: ML
authors.lastname: Budarf
authors.forename: E
authors.initials: E
authors.lastname: Van Schaftingen
authors.forename: J J
authors.initials: JJ
authors.lastname: Cassiman
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002874:Chromosome Mapping; D002892:Chromosomes, Human, Pair 22; D018076:DNA, Complementary; D005656:Fungal Proteins / Q000235:genetics; D015870:Gene Expression; D006801:Humans; D008969:Molecular Sequence Data; D017875:Phosphotransferases (Phosphomutases) / Q000235:genetics*; D012441:Saccharomyces cerevisiae / Q000201:enzymology; D029701:Saccharomyces cerevisiae Proteins; D017386:Sequence Homology, Amino Acid; D014018:Tissue Distribution
chemical_list: D018076:DNA, Complementary; D005656:Fungal Proteins; D029701:Saccharomyces cerevisiae Proteins; D017875:Phosphotransferases (Phosphomutases); C072713:SEC53 protein, S cerevisiae; C052799:phosphomannomutase