title: Cloning of human muscle phosphofructokinase cDNA.
abstract: Three overlapping cDNA clones for human muscle phosphofructokinase (HMPFK) covering the complete coding sequence were isolated. The sequence included a poly(A) tail, a 399 bp 3'-untranslated region, a 2337 bp coding region for 779 amino acid residues and a part of the 5'-untranslated region. Homologies between HMPFK and rabbit muscle phosphofructokinase (RMPFK) were 96% of the amino acids and 89% of the nucleotides in the coding region. Like RMPFK, HMPFK also possessed the internal homology between C- and N-halves in its primary structure. Cloning of HMPFK cDNA will help to identify the molecular defect in patients with glycogenosis type VII (HMPFK deficiency).
authors.affiliation: Second Department of Internal Medicine, Osaka University Medical School, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Nakajima
authors.forename: T
authors.initials: T
authors.lastname: Noguchi
authors.forename: T
authors.initials: T
authors.lastname: Yamasaki
authors.forename: N
authors.initials: N
authors.lastname: Kono
authors.forename: T
authors.initials: T
authors.lastname: Tanaka
authors.forename: S
authors.initials: S
authors.lastname: Tarui
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002874:Chromosome Mapping; D003001:Cloning, Molecular; D004247:DNA / Q000235:genetics; D004262:DNA Restriction Enzymes / Q000235:genetics; D006801:Humans; D008969:Molecular Sequence Data; D009132:Muscles / Q000201:enzymology*; D010732:Phosphofructokinase-1 / Q000235:genetics*; D011061:Poly A / Q000235:genetics
chemical_list: D011061:Poly A; D004247:DNA; D010732:Phosphofructokinase-1; D004262:DNA Restriction Enzymes