Assignment of the human glycogen debrancher gene to chromosome 1p21

Genomics. 1992 Aug;13(4):931-4. doi: 10.1016/0888-7543(92)90003-b.


Glycogen debranching enzyme is a monomeric protein containing two independent catalytic activities of glycantransferase and glucosidase that are both required for glycogen degradation. Its deficiency causes type III glycogen storage disease. A majority of the patients with this disease have deficient enzyme activity in both liver and muscle (type IIIa) but approximately 15% of them lack enzyme activity only in the liver (type IIIb); however, the enzyme is a monomer and appears to be identical in all the tissues. The cDNA coding for the complete human muscle debranching enzyme has recently been isolated. Using the cDNA clones, the debrancher gene was localized to human chromosome 1 by somatic cell hybrid analysis. Regional assignment to chromosome band 1p21 was determined by in situ hybridization. Mapping of the debrancher gene to a single chromosome site is consistent with our hypotheses that a single gene encodes both liver and muscle debrancher protein.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Autoradiography
  • Blotting, Southern
  • Chromosome Banding
  • Chromosome Mapping
  • Chromosomes, Human, Pair 1*
  • Cricetinae
  • DNA
  • Glycogen Debranching Enzyme System / genetics*
  • Humans
  • Hybrid Cells
  • Karyotyping


  • Glycogen Debranching Enzyme System
  • DNA