Literature DB >> 2004553

Localization of the dihydrolipoamide branched-chain transacylase gene (DBT) of the human branched-chain keto acid dehydrogenase complex to chromosome 1.

K S Lau1, R L Eddy, T B Shows, C W Fisher, D T Chuang, R P Cox.   

Abstract

The gene coding for the transacylase subunit (DBT) of the human branched-chain keto acid dehydrogenase complex was localized to chromosome 1 by probing panels of human x mouse chromosome hybrids with an E2 cDNA amplified by the polymerase chain reaction. Additional data with two hybrids containing chromosome 1 fragments suggest that the DBT gene is located on the short arm (1pter----p21) of the chromosome.

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Year:  1991        PMID： 2004553     DOI： 10.1159/000133041

Source DB:  PubMed          Journal:  Cytogenet Cell Genet        ISSN： 0301-0171


  2 in total

1.  Maple syrup urine disease in Mennonites. Evidence that the Y393N mutation in E1 alpha impedes assembly of the E1 component of branched-chain alpha-keto acid dehydrogenase complex.

Authors:  C R Fisher; J L Chuang; R P Cox; C W Fisher; R A Star; D T Chuang
Journal:  J Clin Invest       Date:  1991-09       Impact factor: 14.808

2.  Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry.

Authors:  Charles J Billington; Kimberly A Chapman; Eyby Leon; Beatrix W Meltzer; Seth I Berger; Matthew Olson; Robert A Figler; Steve A Hoang; Cui Wanxing; Brian R Wamhoff; M Sol Collado; Kristina Cusmano-Ozog
Journal:  Am J Med Genet A       Date:  2022-07-07       Impact factor: 2.578
  2 in total

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