Assignment of the human glycogen debrancher gene to chromosome 1p21.

Published

Journal Article

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.

Full Text

Duke Authors

Cited Authors

  • Yang-Feng, TL; Zheng, K; Yu, J; Yang, BZ; Chen, YT; Kao, FT

Published Date

  • August 1992

Published In

Volume / Issue

  • 13 / 4

Start / End Page

  • 931 - 934

PubMed ID

  • 1505983

Pubmed Central ID

  • 1505983

International Standard Serial Number (ISSN)

  • 0888-7543

Language

  • eng

Conference Location

  • United States