Cloning of human muscle phosphofructokinase cDNA.
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).
Nakajima
H
H
Second Department of Internal Medicine, Osaka University Medical School, Japan.
Noguchi
T
T
Yamasaki
T
T
Kono
N
N
Tanaka
T
T
Tarui
S
S
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
D011061:Poly A; D004247:DNA; D010732:Phosphofructokinase-1; D004262:DNA Restriction Enzymes